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138 Cards in this Set
- Front
- Back
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Trisomy 21
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Down's SYndrome
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Trisomy 18
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Edward's Syndrome
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Trisomy 13
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Patau's Syndrome
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Klinefelter Syndrome
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XXY Males
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Triple X (XXX)
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Female, normal appearance, 15-25% mildly retarded
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XYY
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Male, normal in appearance, tall, aggressive
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Turner Syndrome
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45, XO
Type of monosomy |
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Cri-du-chat Syndrome
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Piece of chromosome 5 is deleted
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Sacrococcygeal Teratoma
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Formed by remnant of primitive streak
Most common tumors in new borns (1/35,000) |
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Teratogenesis Associated with Gastrulation
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Teratogens at initiation of Gastrulation (beginning of 3rd week) can have MAJOR impacts such as:
Fusion of Lower Limbs (mermaid syndrome) |
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TFIIH Mutated Gene
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Necessary for TransX
May cause Xeroderma pigmentosa and Cockayne's Syndrome |
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Situs Inversus
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Bodys internal organs are on wrong side (ie heart and spleen on right)
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Kartagemer Syndrome
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Cilia are missing
1/2 of these patients have situs inversus |
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Placenta accreta
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Abnormal superficial attachment of placenta to myometrium
Placenta Increta/Percreta = Further extends into myometrium/penetrates entire myometrium |
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Placenta previa
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Implants close to internal os, overlying cervix
May need C-Section |
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Complete Hydatidiform Mole
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Sperm fertilizes empty egg
Some may develop into choriocarcinoma Almost all women will have abnormal bleeding and high hCG |
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Partial Hydatidiform Mole
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Two sperm fertilize a normal egg
No viable fetus is being formed |
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Results of Timing in Division of Monozygotic Twins
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2-8 Cell Stage = 2 Amnions/Chorions/Placentas
7 Days = Develop within same chorionic sac/share common placenta 8 Days - Share amnion/placenta/chorion 12 Days - Mirror twins Beyond 12 days - Conjoined twins |
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Twin to Twin Transfusion Syndrome (TTTS)
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One twin gets too much blood, one gets too little, usually both die.
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Congenital Diaphragmatic Hernia (CDH)
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AKA Foramen of Bochdalek
Most common anomaly of Diaphragm Posterolateral defect due to faulty closure of Pleuroperitoneal Membrane Abdominal cavity contents can enter Pleural Cavity causing respiratory distress, cardiac shift, underdevelopment of lungs Presents as bowel sounds in thorax Most often on LEFT side (closes later than R) |
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Eventration
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Faulty muscle development in diaphragm --> thin diaphragm, balloons superiorly into thorax --> Abdominal organs displaced superiorly
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Tracheoesophageal Fistula (TE)
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Most common anomaly of trachea
Faulty formation and separation of trachea from esophagus by the tracheoesophageal seuptum Result in direct or indirect aspiration of food into respiratory airway --> Pneumonia and/or Penumonitis can result |
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Double SVC
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AKA Persistent Left SVC
L Anterior and Common Cardinal Veins Persist |
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Left SVC
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L Anterior and Common Cardinal Veins Persist
Right Anterior and Common Cardinal Veins Degenerate |
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Double IVC
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L Supracardinal and Subsupracardinal Anastomosis Persist
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Double Aortic Arch
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Right Dorsal Aorta PERSISTS (abnormal) instead of DEGENERATING (normal)
Forms vascular ring around trachea/esophagus |
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Possible Heart Defects in Week 3
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Dextrocardia (heart on R side)
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Possible Heart Defects in Week 4
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ASDs, Endocardial Cushion Defects
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Possible Heart Defects in Week 5
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Outflow Tract Anomalies
ASDs |
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Possible Heart Defects in Week 6
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ASD
Endocardial Cushion Defect VSD |
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Possible Heart Defects in Week 7
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VSD
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Possible Heart Defects in Week 8
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Coarctation
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Possible Heart Defects Occuring at Birth
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PFO
PDA |
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Total Anomalous Pulmonary Venous Return (TAPVR)
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All 4 pulmonary veins connect to Right Atrium (normally connect to Left)
Partial if any of the veins connect to LA |
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Ebstein's Anomaly
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Tricuspid valve is "apically displaced" (lower than normal)
Leads to "atrialization of the ventricle" |
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Persistent Truncus Arteriosus
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Failure of truncal ridges and aorticopulmonary septum to develop --> one large vessel empties L and R Ventricles
VSD IS ALWAYS PRESENT! |
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Tetralogy of Fallot
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Most common in conotruncal region of heart
Pulmonary Stenosis --> VSD -->Overriding Aorta --> Right Ventricular Hypertrophy = Cyanosis |
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Pneumonic for Determining if Infant is Presenting with Cyanosis:
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Five T's
TA TGA Tricuspid Atresia Tetrology of Fallot TAPVR |
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Ichthyosis
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Excessive keratinization of the skin
Caused by complete or partial deletion of STS gene on X Chromosome |
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Collodion Baby
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"Parchment" baby - Covered with thick, parchment like layer of skin
May represent a persistent periderm |
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Congenital Alopecia
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Absence of scalp hair usually caused by failure of hair follicles to develop
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Hypertrichosis
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Excess hairiness that results from either persistence of lanugo or development of supernumerary hair follicles
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1) Premature-
2) Extremely Premature- |
1) Born Before 37 Weeks
2) Born Before 28 Weeks |
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Intrauterine Growth Retardation (IUGR)
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Babies have reached full term with respect to conceptual age, but are unusually small.
Causes: Placental insufficiency, multiple births, maternal malnutrition, maternal diseases, maternal smoking |
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Excessive Fetal Growth
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Infants of diabetic mothers may be especially large
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Postmaturity Syndrome
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Occur 3 or more weeks after expected date of delivery, with increased mortality.
Labor is often induced |
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Amniocentesis
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14 Gestational Weeks
Alpha Fetal Protein (AFP): Too High = Neural Tube Defects or Open Abdominal Wall Defects Too Low = Downs Syndrome or other Chromosomal Defects |
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Chorionic Villus Sampling
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10-12 Weeks Gestational
Risk to fetus is greater than with Amniocentesis. |
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Timing/Susceptibility to Teratogens:
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0-2 Weeks - Predifferentiation Stage = LOW (any effects are ALL or NONE)
3-8 Weeks - Organogenesis = HIGHLY 8-32 Weeks - Histogenesis = LESS 32-48 Weeks - Functional Maturation = Least |
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Mechanism types by which teratogens produce their effects:
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MOCCO
Mutagenesis Oncogenesis Chromosomal Changes Cell Death Organismal Death |
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Teratogen vs Mutagen
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Teratogen - Acts on SOMATIC cells of developing organism
Mutagen - Acts on GERM cellls and alters GENETIC MATERIAL |
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Recurrence risk of Teratogens?
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Zero!
Exception: Maternal disease state where risk of recurrence is >0 (ex. PKU, Diabetes) |
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Diagnostic Evaluation of Infectious Teratogens:
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TORCH
T=Toxoplasmosis O= Other (Syphillis) R=Rubella C=CMV H=Herpes Simplex II |
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Examples of NON-Teratogenic Substances:
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TAP LT CB
Tricyclic Antidepressants Amphetamines Penicillin LSD Thyroid Hormones Corticosteroids Bendectin |
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CC
Esophageal Atresia |
Failure to develop a esophageal lumen - Due to failure to recanalize the lumen
Associated w/ tracheoesophageal fistulla and deviation of the tracheoesophageal septum Result = Polyhydramnios due to embryo's inability to swallow amniotic fluid |
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CC
Esophageal Stenosis |
Narrowing of esophageal lumen due to partial recanalization OR faulty blood vessel development (resulting in atrophy of affected region) in the esophageal lumen
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CC
Short Esophagus |
Failure to lengthen esophagus
Results in congenital hiatal hernia |
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CC
Anomalies of Stomach |
Generally UNCOMMON
Pyloric Stenosis: -Most Common -Results from hypertrophy of muscularis externa muscle of pyloric sphincter -MORE common in MALES -Result: Projectile Vomiting after feeding AND a mass ("olive") at right subcostal margin |
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CC
Duodenal Atresia |
Failure to recanalize duodenum, it is UNCOMMON.
Associated with anular pancreas. Polyhydramnios present during pregnancy, vomiting with bile present occurs soon after birth DOUBLE BUBBLE on radiograph or ultrasound (distended stomach + duodenum) |
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CC
Duodenal Stenosis |
Incomplete recanalization of duodenum
Presents as bilious vomiting |
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CC
Meconium |
Intestinal Contents/Earliest Stools of a newborn
Bile from liver through bile duct into duodenum produces its DARK GREEN COLOR |
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CC
Extrahepatic Biliary Atresia |
Failure of the ducts to recanalize OUTSIDE the liver
Jaundice present at birth, Clay-Colored Stools, Dark Urine |
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CC
Intrahepatic Biliary Atresia |
Due to hepatic remodeling, infection, or immunologic reaction.
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CC
Anular Pancreas |
MOST COMMON anomaly of Pancreas
Bifurcation of VENTRAL pancreatic bud, one rotates Anteriorly and the other rotates Posteriorly, followed by fusion with each other AND the doral bud. Result = Duodenal Obstruction, symptoms of bowel obstruction MALES AFFECTED MORE OFTEN! |
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CC
Accessory Pancreatic Tissue |
Occurs in wall of stomach, duodenum, or ileal (Meckel's) diverticulum
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CC
Omphalocele |
Failed retraction of midgut
Results in intestinal loops located in proximal portion of umbilical cord AND the abdominal cavity is small |
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CC
Umbilical Hernia |
Due to imperfect closure of the umbilical opening (maybe slow retraction)
Results in herniation of omentum or small intestines with crying |
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CC
Gastroschisis |
Large midline defect in anterior body wall due to lateral folding and anterior wall formation
Results in abdominal contents being extruded into the environment MORE COMMON IN MALES |
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CC
Ileal or Meckel's Diverticulum |
Remnant of proximal portion of the yolk stalk
Appendix-like or attached to/form fistula through abdominal wall at the umbilicus Disease of 2's: -2 Feet UPSTREAM from ileocolic junction -2 Inches Long -2% of Population -2 Epithelial Types Present (gastric/pancreatic) MORE COMMON IN MALES May become inflamed and mimic appendicitis |
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CC
What are MOST anorectal anomalies due to? |
Abnormal development of urorectal septum!
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CC
Congenital Megacolon (colonic aganglionosis, Hirschsprung's Disease) |
Failure of Neural Crest cell migration into a segment of colon to form PARASYM ganglia
Results in paralyzed segment of colon w/ massive dilation of the colon proximal to that segment MORE COMMON IN MALES |
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CC
Where are high/low anorectal anomalies named in relation to? |
Above/below Puborectalis Muscle
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Low Anorectal Anomalies
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Below Puborectalis Muscle
Ex. IAA -Imperforate Anus or Membranous Anal Atresia -Anal Stenosis (slight dorsal deviation of urorectal septum) -Anal Agenesis (slight ventral deviation of urorectal septum) |
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High Anorectal Anomalies
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Above Puborectalis Muscle
Ex. AR -Anorectal Agenesis (most common, meconium discharge from vagina or in urine) -Rectal Atresia (anal canal/rectum not connected by lumen) |
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CC
Oligohydramnios |
Insufficient Amniotic Fluid
Cause? Bilateral renal agenesis OR an obstruction of the urinary tract |
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CC
Remnants of Urachus |
Remnants of Urachal Lining = Urachal Cysts
Patent Inferior End = Sinus Entire Patent Urachus = Urachal Fistula, urine dribbles from umbilicus |
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CC
Congenital Adrenal Hyperplasia (CAH) AKA Adrenogenital Syndrome |
Abnormal increase in cells of the cortex leading to increased cortical function and androgen production
Causes Virilization of female fetuses |
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CC
Most common form of Congenital Adrenal Hyperplasia |
95%
21-hydroxylase deficiency Overproduction of male steroid hormones (androgens) IN ADDITION TO underproduced Cortisol and Aldosterone = differential diagnosis of CAH rather than Addison's Disease |
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CC
Testicular Hydrocele |
Occurs when the lumen of the Processus Vaginalis remains patent (normally collapses and is obliterated)
Can then fill with peritoneal fluid, becoming a hydrocele |
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CC
Indirect Inguinal Hernias involving Processus Vaginalis |
Occurs when ENTIRE Processus Vaginalis remains patent!
Connection b/w abdominal cavity and scrotal sac is formed Loops of Intestines can herniate into the process, resulting in the Indirect Inguinal Hernia Repair of this is 2nd MOST common childhood operation! |
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CC
Intersex (True Hermaphroditism) |
=True Gonadal Intersex
Extremely Rare Both Testicular AND Ovarian Tissue is present (Ovotestis) but NOT functional! 60-70% of these have 46, XX Genotype Either a Fallopian Tube OR Ductus Deferens, but NOT BOTH |
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CC
46 XY (Male Pseudohermaphroditism) |
Genetic Males but appear Ambiguous, Incomplete, or as 100% female
Causes: 1) Testosterone/MIS Production 2) Testosterone Conversion Enzymes 3) Androgen Receptor Problems (AIS) |
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CC
Androgen Insensitivity Syndrome (AIS) |
Most common cause of Male Pseudohermaphroditism
Normal Hormone, BAD Androgen Receptors Testes Present (thus Sertoli Cells, Leydig Cells also) so NO female internal organs develop (AMH/MIS produced) |
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CC
Swyer Syndrome |
ANother cause of Male Psuedohermaphroditism
Caused by a defect in the SRY Gene No SRY = No TDF = No Testis Differentiation |
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CC
46 XX (Female Psuedohermaphroditism) |
Cause is overexposure to Androgens
No Y Chromosome = Ovary develops Paramesonephric Ducts develop into internal female organs Most common cause is Congenital Adrenal Hyperplasia (CAH) Other causes: Exogenous Testosterone (mother taking it) or Ovariar Tumor producing Testerosterone |
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CC
Congenital Adrenal Hyperplasia (CAH) |
Most common cause of Female Pseudohermaphroditism
Excessive production of androgens by the fetal suprarenal glands Causes varying degrees of masculinization Labia can be fused and clitoris enlarged |
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CC
Complex or Undetermined Intersex |
Children have varying sex chromosomal conditions, including:
1) 45 XO = Turner Syndrome - Female Phenotype 2) 47 XXY = Klinefelter Syndrome - Male Phenotype 3) XXX = Female Phenotype |
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CC
Epispadias |
Inadequate ectodermal-mesenchymal interactions during devo of GENITAL TUBERCLE
Result: Urethral orifice is on DORSAL surface of penis |
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CC
Hypospadias |
Failure of fusion of UROGENITAL FOLDS
Result: Urethral orifice is on VENTRAL surface of penis MOST COMMON PENIS ANOMALY |
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CC
Cryptorchidism |
Testis fail to descend (uni or bi-lateral)
Possible androgen deficiency Result: Will usually descend within 3 months- 1 year. INCREASED risk of Testicular Cancer! |
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Brevicollis AKA Klippel-Feil Syndrome
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Less than normal number of cervical vertebral bodies
Short neck and restricted neck movements |
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Spondylolisthesis
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Failure of vertebral arches to fuse with vertebral body
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Cervical Accessory Ribs
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Can put pressure on brachial plexus or subclavian artery
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Rachischisis
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Cleft Vertebral Column
Neural folds fail to fuse |
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Acrania
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Calvaria is absent and is usually associated with meroanencephaly (failure of cranial end of neural tube to close)
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Osteogenesis Imperfecta
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Extreme bone fragility with spontaneous fractures in utero
Caused by deficiency in Type 1 Collagen Fatal in utero or early neonatal period |
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Marfan Syndrome
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Genetic defect in Fibrillin Protein (component of Elastic Tissue)
Excessively long limbs and height and dislocation of the lens (ectopia lentis) |
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Rickets
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Vitamin D Deficiency leads to Calcium Deficiency
Disturbs ossification of limbs Limbs are shortened and deformed with bowing |
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Craniosynostosis (TGFBeta)
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Premature Suture Closure
4 Types: Scaphocephaly-Sagital Suture - Long,narrow skull Acrocephaly-Coronal Suture - "Tower" Skull Brachycephaly-Coronal AND Lambdoid-Short Skull Plagiocephaly-Frontal Suture-Frontal bone anomaly |
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Achondroplasia
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Common cause of dwarfism
Disturbance of endochondral ossification at Epiphysial plates FGFR3 Gene Autosomal Dominant |
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Thanatophoric Dysplasia
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Most common neonatal lethal form of dwarfism
FGFR3 Gene Type 1: Short, curved femurs w/ or w/o cloverleaf skull Type 2: Long straight femus w/cloverleaf skull |
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Pfeiffer Syndrome
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Craniosynostosis, broad great toes and thumbs, clover leaf skull, underdeveloped face
FGFR1 Gene |
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Apert Syndrome
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Craniosynostosis, underdeveloped face, symmetric.
Syndactyly of hands and feet FGFR2 |
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Poland Anomaly
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Total or partial absence of the pectoralis major muscle
Often associated with syndactyly |
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Prune Belly
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Partial or total absence of abdominal musculature
Associated with urinary tract disorders and in extreme cases, exstrophy of the bladder |
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Congenital Torticollis
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Tearing of SCM muscle during childbirth
Tear results in death of muscle fivers and shortening of muscle, resulting in lateral bending of neck to the AFFECTED side |
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Amelia
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Absence of a limb
Usually caused by suppression of limb devo in the 4th week |
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Meromelia
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Absence of PART of a limb
Usually caused by suppression of limb devo in the 5th week |
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Cleft Hand or Foot (Lobster Claw)
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Causes absence of one or more central digits that oppose each other
Remaining digits are often fused = syndactyly |
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1) Brachydactyly
2) Polydactyly 3) Syndactyly |
1) Shortness of digits, Inherited dominant trait
2) Supernumerary digits, often incompletely formed and lack proper musculature 3) Most common limb anomaly, cutaneous (failure of web to degenerate) and osseous (notches between digital rays fail to develop) varieties |
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Congenital Clubfoot
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Any deformity of the foot involving the ankle (Talus)
Prevents normal weight bearing Most Common Type = Talipes Equinovarus - Sole of foot is turned medially and foot is inverted |
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Unilateral Renal Agenesis
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Absence of Renal Tissue on One Side
Absence of Vas Deferens on one side in males suggests renal agenesis! Remaining solitary kidney is MORE prone to abnormality of Position AND Rotation Clue = 1 Umbilical Artery |
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Bilateral Renal Agenesis
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Incompatible with life
Associated HYPOplastic lungs are usually responsible for Death Clue = Oligohydramnios Also associated with Potter Facies - Increased Width b/w eyes, flattening of nose, large low-set ears, premature senility |
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Supernumerary Kidney
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Caused by Splitting of Nephrogenic Blastema
Rare |
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Malrotation of the Kidney
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Normal = Anterior Hilum rotates 90 degrees medially to a Medial Position
Most Common Malrotation = Persistent Anterior Hilum Excessive axial rotation = posterior facing hilum Abnormal lateral axial rotation = Lateral facing Hilum |
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Ectopic Kidneys
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Most are inferiorly placed, with pelvic position most common
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Pelvic Kidneys
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Results from failure to ascend
Other anomalies include Cryptorchidism, Hypospadias, Absent Vagina, Dysplastic Vertebrate, Congenital Heart Disease, GI Anomalies Vesicoureteral Reflux Common |
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Intrathoracic Kidney
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Result from Ascending TOO Far
Extremely rare More common on LEFT |
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Crossed Renal Ectopia w/ Fusion
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One kidney ascends incompletely, and migrates to opposite side
Crossed kidney normally BELOW the normal one |
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Horseshoe Kidney
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Most common type of fusion
90% fused at LOWER (INFERIOR) pole More frequent with WILM's Tumors Lower than normal location because full ascent is prevented by root of IMA |
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Autosomal Recessive Polycystic Kidney Disease (ARPKD)
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Dx prenatally or at birth by Ultrasound
Hundres of Cycts on Collecting Ducts Progressive Renal Failure in infancy and childhood Treated via Dialysis or Transplantation Cysts of Liver and Pancreas Occur |
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Autosomal Dominant Polycystic Kidney Disease (ADPKD) aka Multicystic Dysplastic Kidney Disease
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More common BUT LESS progressive than ARPKD
Adult Renal failure Cysts in ALL renal segments Mutation in Polycystin-1 and Polycystin-2 genes! Cysts also occur in Liver, Pancreas, Testis, and Ovary |
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Ureteral Duplication - Complete
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Two Ureteral Buds arise from One Mesonephric Duct
Result: Bifid Ureter OR Two Separate Ureters More SUperior Ureter's Opening will be located Infero-Medial to that of the Lower Ureter. Why? It remains associated with the mesonephric duct LONGER |
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Ureteral Duplication - Incomplete
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Results from early bifurcation of the Ureteric Bud
May occur at any time, so can be at ANY level along the Ureter |
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Ectopic Ureter
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Results from faulty incorporation of ureter into the posterior wall of the bladder
More common in FEMALES Incontinence seen in FEMALES ONLY UTI or Epididymorchitis can occur in Males |
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Retrocaval Ureter
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Results from abnormal formation of the Vena Cava (NOT THE URETER!)
Due to Persistence of Subcardinal Vein Almost always on RIGHT SIDE Ureter passes posterior to IVC, then between aorta, then lateral to normal position Hydronephrosis may result from ureteral compression by IVC! |
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Exstrophy of Bladder
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Mesodermal invasion of area prevented by abnormal position of Cloacal Membrane
When membrane ruptures, get a extrophic bladder! Occurs chiefly in MALES Causes acute and chronic inflammatory changes in bladder mucosa Adenocarcinoma common. Associated with bifid clitoris in females. Corpus spongiosum absent. |
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Hypospadias
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Males
Urethral Opening on VENTRAL surface of Glans |
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Epispadias
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Males
Urethral Opening on DORSAL surface of Penis Associated with bladder exstrophy |
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Bifid Penis
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Result of Genital Tubercle Duplication
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Micropenis
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Penis hidden in suprapubic fatpad
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Uterine Anomalies
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Faulty fusion of Paramesonephric Ducts
Varieties: 1) Duplication 2) Bicornuate 3) Septate 4) Unicornate |
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Absence of Vagina and Uterus
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Failure of Sinovaginal Bulbs to Form
If Vagina is absent, Uterus WILL ALSO be absent! |
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Vaginal Atresia
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Failure of Vaginal Plate to Canalize
Failure of Inferior End of Vaginal Plate to Perforate = Imperforate Hymen |
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Cryptorchidism aka Undescended Testes
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Incomplete testes descent, typically will reach Scrotum within first year of life.
If Bilateral, Sterility occurs. Increased incidence of Germ Cell Tumors in Uncorrected Cases |
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Ectopic Testes
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Due to Abnormal Inferior Attachment of Gubernaculum
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Congenital Inguinal Hernia
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More common in MALES, especially with undescended testes
Processus Vaginalis fails to close, creating susceptibility to bowel herniation |
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Hydrocele
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Scrotal or Spermatic Cord with persistent Processus Vaginalis w/ small abdominal opening allowing peritoneal fluid to enter it
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