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185 Cards in this Set
- Front
- Back
Bladder can be seen by what gestational week? |
12 weeks |
|
This pt often has Oligohydramnios, bilateral kidneys involved, cysts microscopic or tiny causing hyperechoic. Finding? |
Infantile polycystic kidney disease. (Autosomal recessive) |
|
Adrenal glands present, absent kidneys, anhydramnios, empty bladder, finding? |
Renal agenesis |
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Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding? |
Meckel Gruber Syndrome |
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Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding? |
Meckel Gruber Syndrome |
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Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester. |
Renal pelvis dilation 2nd trimester: 5mm AP diameter. 3rd trimester: 10 mm AP diameter. |
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Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding? |
Meckel Gruber Syndrome |
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Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester. |
Renal pelvis dilation 2nd trimester: 5mm AP diameter. 3rd trimester: 10 mm AP diameter. |
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What’s the most common cause of neonatal hydronephrosis? |
Uteropelvic junction obstruction |
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Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding? |
Meckel Gruber Syndrome |
|
Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester. |
Renal pelvis dilation 2nd trimester: 5mm AP diameter. 3rd trimester: 10 mm AP diameter. |
|
What’s the most common cause of neonatal hydronephrosis? |
Uteropelvic junction obstruction |
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Ureter torturous, dilation of renal pelvis and ureter. Aperistaltic distal ureteral segment. Finding? |
Uterovesical junction obstruction |
|
Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding? |
Meckel Gruber Syndrome |
|
Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester. |
Renal pelvis dilation 2nd trimester: 5mm AP diameter. 3rd trimester: 10 mm AP diameter. |
|
What’s the most common cause of neonatal hydronephrosis? |
Uteropelvic junction obstruction |
|
Ureter torturous, dilation of renal pelvis and ureter. Aperistaltic distal ureteral segment. Finding? |
Uterovesical junction obstruction |
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Exclusively males, bladder very distended (keyhole sign) oligo present. |
Posterior urethral valves. |
|
Failure of muscle development of anterior abd wall, abd wall mass, umbilicus inferiority displaced. Distinguish from omphalocele or gastroschisis be Eval cord insertion and content in abd mass. Finding? |
Bladder exstrophy |
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Lack of amniotic fluid, renal failure, pulm hypoplasia might develop. This dx prognosis depends on severity. Finding? |
Potte syndrome. |
|
Lack of amniotic fluid, renal failure, pulm hypoplasia might develop. This dx prognosis depends on severity. Finding? |
Potter syndrome. |
|
Males only, thin or lax anterior abd wall, torturous urethra, hydro and renal dysplasia, known cryptochordism. |
Prune belly syndrome |
|
Kidneys seen what gest week and what are the sono appearance? Location? |
14 weeks, bilateral hyperechoic structures. Lateral to spine. |
|
Kidneys seen what gest week and what are the sono appearance? Location? |
14 weeks, bilateral hyperechoic structures. Lateral to spine. |
|
Where is the urinary bladder derived from? Bilateral renal agensis is referred as? |
Hindgut. Potter syndrome |
|
Mc in males, inferior poles fused? |
Horseshoe kidney |
|
What renal abnormalities is there? |
Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst |
|
What renal abnormalities is there? |
Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst |
|
Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop. |
Renal dysplasia |
|
What renal abnormalities is there? |
Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst |
|
Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop. |
Renal dysplasia |
|
Congenital, entire portion of kidney may be affected. Ureter, renal pelvis may be absent or closed. Renal artery maybe hypoplastic or absent. Large cystic kidneys. |
Multicystic Kidney disease |
|
What renal abnormalities is there? |
Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst |
|
Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop. |
Renal dysplasia |
|
Congenital, entire portion of kidney may be affected. Ureter, renal pelvis may be absent or closed. Renal artery maybe hypoplastic or absent. Large cystic kidneys. |
Multicystic Kidney disease |
|
Affects both kidneys and liver. Enlarged renal with very small cysts. |
ARPKD or IPKD |
|
What renal abnormalities is there? |
Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst |
|
Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop. |
Renal dysplasia |
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Congenital, entire portion of kidney may be affected. Ureter, renal pelvis may be absent or closed. Renal artery maybe hypoplastic or absent. Large cystic kidneys. |
Multicystic Kidney disease |
|
Affects both kidneys and liver. Enlarged renal with very small cysts. |
ARPKD or IPKD |
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Cyst vary in size and shape, this is inherited. One parent has hx of kidney disease. Most common inherited form. |
Autosomal dominant kidney disease |
|
What syndromes are associated with renal abnormalities? |
Meckel Gruber syndrome, Prune Belly syndrome, Potters syndrome. |
|
What syndromes are associated with renal abnormalities? |
Meckel Gruber syndrome, Prune Belly syndrome, Potters syndrome. |
|
Fetus has low set ears, wide set eyes, lack of amniotic fluid, recessed chin, or even bilateral absent kidneys. Finding? |
Potter syndrome |
|
Common in males, undescended Testicles, agensis abd wall muscle, hydro, bladder mimic PUV, no keyhole sign tho. Ureter dilated with cyst and oligo. |
Prune belly syndrome |
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Most common dilation of renal pelvis due to blockage? |
Hydronephrosis; obstruction are ureter, bladder, urethra. |
|
Most common cause of fetal hydronephrosis? |
Uteropelvic junction. |
|
Most common cause of fetal hydronephrosis? |
Uteropelvic junction. |
|
This obstruction is at the lower end of the ureter. Ureter will be torturous. Suspect? |
Uterovesicol junction |
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Most common cause of fetal hydronephrosis? |
Uteropelvic junction. |
|
This obstruction is at the lower end of the ureter. Ureter will be torturous. Suspect? |
Uterovesicol junction |
|
Obstruction at level of urethra? |
Urethral obstruction |
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In utero double collecting system can occur at which pole of the kidney and cause what? |
Lower kidney pole; follow ureter into pelvis; uterovesical junction can be the outcome. (Obstruction are lower end of ureter). |
|
In neonates, renal defects; look where? |
Müllerian ducts, comes from mesoderm. -Metanephros. |
|
In neonates, renal defects; look where? |
Müllerian ducts, comes from mesoderm. -Metanephros. |
|
What organ occupies larger volume of fetal abdomen? |
Liver |
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Primitive gut forms which week? |
4 weeks; Foregut, midgut, hindgut |
|
Foregut includes which structures? |
esophagus, stomach, celiac artery, dorsal pancreatic bud |
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Foregut includes which structures? |
esophagus, stomach, celiac artery, dorsal pancreatic bud |
|
Midgut forms? Hindgut forms? |
SMA- supples ascending and most of transverse colon. IMA |
|
In utero which side of liver larger? Gallbladder is on which side of the abdomen? |
Left lobe. Right side (Elongated tear drop shape). |
|
Stomach is seen what gest week? What is posterior to stomach? |
7 weeks; fluid filled (4mm) Spleen. |
|
Duodenal atresia is linked to? Sono sign? |
Trisomy 21 Double bubble sign. |
|
Duodenal atresia is linked to? Sono sign? |
Trisomy 21 Double bubble sign. |
|
Esophageal atresia, is a stomach visualized? Polyhdramnios is visualized. |
No stomach bubble identified. |
|
Eval the bowel and compare to bone. If brighter, cause can be? |
Trisomy 21, cystic fibrosis |
|
You can diagnose this after 12 weeks, elevated maternal AFP, Eval at site of umbilical cord insertion |
Anterior abdominal wall defect. |
|
You can diagnose this after 12 weeks, elevated maternal AFP, Eval at site of umbilical cord insertion |
Anterior abdominal wall defect. |
|
What are the four embryonic folds? |
Caudal- Bladder Extrophy Cephalic- ectopia cordis 2 lateral- Omphalocele |
|
This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding? |
Omphalocele |
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This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding? |
Omphalocele |
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This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities. |
Gastroschisis |
|
This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding? |
Omphalocele |
|
This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities. |
Gastroschisis |
|
Failure fusion of lateral folds in thoracic region. Failure of development of diaphragm. Diaphragmatic hernia, Midline abd defect, cardiac abnormalities. |
Pentalogy of Cantrell |
|
This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding? |
Omphalocele |
|
This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities. |
Gastroschisis |
|
Failure fusion of lateral folds in thoracic region. Failure of development of diaphragm. Diaphragmatic hernia, Midline abd defect, cardiac abnormalities. |
Pentalogy of Cantrell |
|
Visual of limb defect in utero patient. Encephalocele and facial defects. Aka failure of closure of ventral body wall. |
Limb body wall complex |
|
This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding? |
Omphalocele |
|
This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities. |
Gastroschisis |
|
Failure fusion of lateral folds in thoracic region. Failure of development of diaphragm. Diaphragmatic hernia, Midline abd defect, cardiac abnormalities. |
Pentalogy of Cantrell |
|
Visual of limb defect in utero patient. Encephalocele and facial defects. Aka failure of closure of ventral body wall. |
Limb body wall complex |
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Inability to identify bladder, abd wall mass, umbilicus inferiorly displaced. Isolated defect. |
Bladder exstrophy |
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Two or more cystic areas in the abdomen, exclude gallbladder. Poly may be present. Prox to area of interest filled with fluid. Distal, no visual. |
Bowel atresia or obstruction |
|
This is an outpouching of the small intestine. Failure of absorption of the vitelline duct. This is the most common malformation of the midgut? |
Meckels Diverticulum |
|
Known as double bubble. Assoc with poly and trisomy 21. Finding? |
Duodenal atresia |
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Known as double bubble. Assoc with poly and trisomy 21. Finding? |
Duodenal atresia |
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Poor in non immune Hydrops, fluid in abdominal area. Bowel perforation is a cause. Idiopathic, rupture, intrauterine infection, hydrometrocolpos. Finding? |
Ascites |
|
Known as double bubble. Assoc with poly and trisomy 21. Finding? |
Duodenal atresia |
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Poor in non immune Hydrops, fluid in abdominal area. Bowel perforation is a cause. Idiopathic, rupture, intrauterine infection, hydrometrocolpos. Finding? |
Ascites |
|
Limb body wall complex most common on what side? AssociTd with? |
Left side. Assoc with ABS, anencephaly, encephalocele, facial cleft. |
|
Omphalocele is assoc with? |
Trisomy 13, 18. Two lateral fold fail to fuse. |
|
With gastroschisis, what labs will be elevated? |
AFP |
|
Beckwith Weidman syndrome is assoc with? |
Macroglossia, omphalocele, visceromegaly. |
|
Bladder exstrophy ? Cloacal exstrophy? |
Bladder exstrophy: bladder outside body. Cloacal- bladder and rectum, imperforated anus. vagina, UB, rectum fuse together. |
|
Prune belly syndrome is associated to? |
Trisomy 13,18. AFP low. |
|
Most common renal tumor in neonates? |
Mesoblastic Nephroma |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
OI type 1, II, III, IV? |
1 - multiple fracture from childhood; short. II- most severe; progress deformation -respiratory problems. III- severe, transmitted through autosomal dominant and recessive. Handicapped with progressive deformities of long bones and spine IV- mild |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
OI type 1, II, III, IV? |
1 - multiple fracture from childhood; short. II- most severe; progress deformation -respiratory problems. III- severe, transmitted through autosomal dominant and recessive. Handicapped with progressive deformities of long bones and spine IV- mild |
|
Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity. |
Congenital hypophosphatasia |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
OI type 1, II, III, IV? |
1 - multiple fracture from childhood; short. II- most severe; progress deformation -respiratory problems. III- severe, transmitted through autosomal dominant and recessive. Handicapped with progressive deformities of long bones and spine IV- mild |
|
Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity. |
Congenital hypophosphatasia |
|
Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect? |
Diastrophic dysplasia (Non lethal) |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
OI type 1, II, III, IV? |
1 - multiple fracture from childhood; short. II- most severe; progress deformation -respiratory problems. III- severe, transmitted through autosomal dominant and recessive. Handicapped with progressive deformities of long bones and spine IV- mild |
|
Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity. |
Congenital hypophosphatasia |
|
Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect? |
Diastrophic dysplasia (Non lethal) |
|
This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding? |
Camptomelic Dysplasia (Lethal) |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
OI type 1, II, III, IV? |
1 - multiple fracture from childhood; short. II- most severe; progress deformation -respiratory problems. III- severe, transmitted through autosomal dominant and recessive. Handicapped with progressive deformities of long bones and spine IV- mild |
|
Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity. |
Congenital hypophosphatasia |
|
Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect? |
Diastrophic dysplasia (Non lethal) |
|
This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding? |
Camptomelic Dysplasia (Lethal) |
|
Arms / legs malformation.Facial abnormalities, assoc with chromosomal abnormalities. Bilateral cleft palate / lip, hypertelorism, microcephaly, cardiovascular, renal/ Gi anomalies. |
Robert syndrome (Pseudothalidomide) |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
OI type 1, II, III, IV? |
1 - multiple fracture from childhood; short. II- most severe; progress deformation -respiratory problems. III- severe, transmitted through autosomal dominant and recessive. Handicapped with progressive deformities of long bones and spine IV- mild |
|
Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity. |
Congenital hypophosphatasia |
|
Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect? |
Diastrophic dysplasia (Non lethal) |
|
This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding? |
Camptomelic Dysplasia (Lethal) |
|
Arms / legs malformation.Facial abnormalities, assoc with chromosomal abnormalities. Bilateral cleft palate / lip, hypertelorism, microcephaly, cardiovascular, renal/ Gi anomalies. |
Robert syndrome (Pseudothalidomide) |
|
This is assoc with maternal diabetes, effects lumbar, sacral, and lower limbs. |
Causal regression syndrome |
|
What’s the most common lethal skeletal dysplasia? Most common non lethal skeletal dysplasia? |
Thanatotrophic Dysplasia Achondroplasia |
|
Fusion of lower extremities/ male dominance, absent sacrum, associated with oligo, diabetic, Single umbilical artery, finding? |
Sirenomelia |
|
Achondroplasia, differentiate? Which is more lethal? |
Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span. Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax. |
|
Explain Achondrogenesis? |
Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode. Type 2: Langer Saldino less severe, less common. Prognosis poor. |
|
Osteogenesis imperfects; what is the mildest form and most severe? |
Mildest- Type 1 Severe- type 2 |
|
OI type 1, II, III, IV? |
1 - multiple fracture from childhood; short. II- most severe; progress deformation -respiratory problems. III- severe, transmitted through autosomal dominant and recessive. Handicapped with progressive deformities of long bones and spine IV- mild |
|
Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity. |
Congenital hypophosphatasia |
|
Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect? |
Diastrophic dysplasia (Non lethal) |
|
This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding? |
Camptomelic Dysplasia (Lethal) |
|
Arms / legs malformation.Facial abnormalities, assoc with chromosomal abnormalities. Bilateral cleft palate / lip, hypertelorism, microcephaly, cardiovascular, renal/ Gi anomalies. |
Robert syndrome (Pseudothalidomide) |
|
This is assoc with maternal diabetes, effects lumbar, sacral, and lower limbs. |
Causal regression syndrome |
|
Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin? |
Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia. |
|
Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin? |
Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia. |
|
Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding? |
Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia |
|
Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin? |
Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia. |
|
Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding? |
Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia |
|
Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together. |
Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia. |
|
Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin? |
Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia. |
|
Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding? |
Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia |
|
Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together. |
Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia. |
|
What are the non lethal skeletal dysplasia? |
Heterozygous Achondroplasia, Osteogenesis 1, 3,4, Ellis Vancrepveld, CRS, VACTERL syndrome, hand/ foot syndromes. |
|
Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin? |
Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia. |
|
Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding? |
Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia |
|
Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together. |
Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia. |
|
What are the non lethal skeletal dysplasia? |
Heterozygous Achondroplasia, Osteogenesis 1, 3,4, Ellis Vancrepveld, CRS, VACTERL syndrome, hand/ foot syndromes. |
|
Permanent bent / straight position. Clenched hands, flexed arms, poly or oligo present, finding? |
Arthrogryposis multiplexcongenital |
|
Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin? |
Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia. |
|
Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding? |
Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia |
|
Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together. |
Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia. |
|
What are the non lethal skeletal dysplasia? |
Heterozygous Achondroplasia, Osteogenesis 1, 3,4, Ellis Vancrepveld, CRS, VACTERL syndrome, hand/ foot syndromes. |
|
Permanent bent / straight position. Clenched hands, flexed arms, poly or oligo present, finding? |
Arthrogryposis multiplexcongenital |
|
Pulm hypoplasia, Rocker bottom feet, clenched hands, facial abnormalities, IUGR, micrognathia, poly, trisomy 18. Finding? |
Pena Shokeir Syndrome |