Urinary System- Board

Front 1

Bladder can be seen by what gestational week?

Back 1

12 weeks

Front 2

This pt often has Oligohydramnios, bilateral kidneys involved, cysts microscopic or tiny causing hyperechoic. Finding?

Back 2

Infantile polycystic kidney disease. (Autosomal recessive)

Front 3

Adrenal glands present, absent kidneys, anhydramnios, empty bladder, finding?

Back 3

Renal agenesis

Front 4

Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding?

Back 4

Meckel Gruber Syndrome

Front 5

Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding?

Back 5

Meckel Gruber Syndrome

Front 6

Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester.

Back 6

Renal pelvis dilation 2nd trimester: 5mm AP diameter.

3rd trimester: 10 mm AP diameter.

Front 7

Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding?

Back 7

Meckel Gruber Syndrome

Front 8

Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester.

Back 8

Renal pelvis dilation 2nd trimester: 5mm AP diameter.

3rd trimester: 10 mm AP diameter.

Front 9

What’s the most common cause of neonatal hydronephrosis?

Back 9

Uteropelvic junction obstruction

Front 10

Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding?

Back 10

Meckel Gruber Syndrome

Front 11

Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester.

Back 11

Renal pelvis dilation 2nd trimester: 5mm AP diameter.

3rd trimester: 10 mm AP diameter.

Front 12

What’s the most common cause of neonatal hydronephrosis?

Back 12

Uteropelvic junction obstruction

Front 13

Ureter torturous, dilation of renal pelvis and ureter. Aperistaltic distal ureteral segment. Finding?

Back 13

Uterovesical junction obstruction

Front 14

Enlarged kidneys, often with oligo. Renal dysplasia finding, encephalocele and polydactyl. Finding?

Back 14

Meckel Gruber Syndrome

Front 15

Renal pelvis dilation is considered ____ in second trimester. ____ in third trimester.

Back 15

Renal pelvis dilation 2nd trimester: 5mm AP diameter.

3rd trimester: 10 mm AP diameter.

Front 16

What’s the most common cause of neonatal hydronephrosis?

Back 16

Uteropelvic junction obstruction

Front 17

Ureter torturous, dilation of renal pelvis and ureter. Aperistaltic distal ureteral segment. Finding?

Back 17

Uterovesical junction obstruction

Front 18

Exclusively males, bladder very distended (keyhole sign) oligo present.

Back 18

Posterior urethral valves.

Front 19

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?

Back 19

Bladder exstrophy

Front 20

Lack of amniotic fluid, renal failure, pulm hypoplasia might develop. This dx prognosis depends on severity. Finding?

Back 20

Potte syndrome.

Front 21

Lack of amniotic fluid, renal failure, pulm hypoplasia might develop. This dx prognosis depends on severity. Finding?

Back 21

Potter syndrome.

Front 22

Males only, thin or lax anterior abd wall, torturous urethra, hydro and renal dysplasia, known cryptochordism.

Back 22

Prune belly syndrome

Front 23

Kidneys seen what gest week and what are the sono appearance?

Location?

Back 23

14 weeks, bilateral hyperechoic structures.

Lateral to spine.

Front 24

Kidneys seen what gest week and what are the sono appearance?

Location?

Back 24

14 weeks, bilateral hyperechoic structures.

Lateral to spine.

Front 25

Where is the urinary bladder derived from?

Bilateral renal agensis is referred as?

Back 25

Hindgut.

Potter syndrome

Front 26

Mc in males, inferior poles fused?

Back 26

Horseshoe kidney

Front 27

What renal abnormalities is there?

Back 27

Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst

Front 28

What renal abnormalities is there?

Back 28

Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst

Front 29

Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop.

Back 29

Renal dysplasia

Front 30

What renal abnormalities is there?

Back 30

Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst

Front 31

Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop.

Back 31

Renal dysplasia

Front 32

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.

Back 32

Multicystic Kidney disease

Front 33

What renal abnormalities is there?

Back 33

Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst

Front 34

Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop.

Back 34

Renal dysplasia

Front 35

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.

Back 35

Multicystic Kidney disease

Front 36

Affects both kidneys and liver. Enlarged renal with very small cysts.

Back 36

ARPKD or IPKD

Front 37

What renal abnormalities is there?

Back 37

Renal agenesis, IPKD, MultiCystic Kidney disease, renal cyst

Front 38

Most commonly this occurs to bilateral kidneys, cysts are enlarged. Kidneys did not fully develop.

Back 38

Renal dysplasia

Front 39

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.

Back 39

Multicystic Kidney disease

Front 40

Affects both kidneys and liver. Enlarged renal with very small cysts.

Back 40

ARPKD or IPKD

Front 41

Cyst vary in size and shape, this is inherited. One parent has hx of kidney disease. Most common inherited form.

Back 41

Autosomal dominant kidney disease

Front 42

What syndromes are associated with renal abnormalities?

Back 42

Meckel Gruber syndrome, Prune Belly syndrome, Potters syndrome.

Front 43

What syndromes are associated with renal abnormalities?

Back 43

Meckel Gruber syndrome, Prune Belly syndrome, Potters syndrome.

Front 44

Fetus has low set ears, wide set eyes, lack of amniotic fluid, recessed chin, or even bilateral absent kidneys. Finding?

Back 44

Potter syndrome

Front 45

Common in males, undescended Testicles, agensis abd wall muscle, hydro, bladder mimic PUV, no keyhole sign tho. Ureter dilated with cyst and oligo.

Back 45

Prune belly syndrome

Front 46

Most common dilation of renal pelvis due to blockage?

Back 46

Hydronephrosis; obstruction are ureter, bladder, urethra.

Front 47

Most common cause of fetal hydronephrosis?

Back 47

Uteropelvic junction.

Front 48

Most common cause of fetal hydronephrosis?

Back 48

Uteropelvic junction.

Front 49

This obstruction is at the lower end of the ureter. Ureter will be torturous. Suspect?

Back 49

Uterovesicol junction

Front 50

Most common cause of fetal hydronephrosis?

Back 50

Uteropelvic junction.

Front 51

This obstruction is at the lower end of the ureter. Ureter will be torturous. Suspect?

Back 51

Uterovesicol junction

Front 52

Obstruction at level of urethra?

Back 52

Urethral obstruction

Front 53

In utero double collecting system can occur at which pole of the kidney and cause what?

Back 53

Lower kidney pole; follow ureter into pelvis; uterovesical junction can be the outcome. (Obstruction are lower end of ureter).

Front 54

In neonates, renal defects; look where?

Back 54

Müllerian ducts, comes from mesoderm.

-Metanephros.

Front 55

In neonates, renal defects; look where?

Back 55

Müllerian ducts, comes from mesoderm.

-Metanephros.

Front 56

What organ occupies larger volume of fetal abdomen?

Back 56

Liver

Front 57

Primitive gut forms which week?

Back 57

4 weeks; Foregut, midgut, hindgut

Front 58

Foregut includes which structures?

Back 58

esophagus, stomach, celiac artery, dorsal pancreatic bud

Front 59

Foregut includes which structures?

Back 59

esophagus, stomach, celiac artery, dorsal pancreatic bud

Front 60

Midgut forms?

Hindgut forms?

Back 60

SMA- supples ascending and most of transverse colon.

IMA

Front 61

In utero which side of liver larger?

Gallbladder is on which side of the abdomen?

Back 61

Left lobe.

Right side (Elongated tear drop shape).

Front 62

Stomach is seen what gest week?

What is posterior to stomach?

Back 62

7 weeks; fluid filled (4mm)

Spleen.

Front 63

Duodenal atresia is linked to?

Sono sign?

Back 63

Trisomy 21

Double bubble sign.

Front 64

Duodenal atresia is linked to?

Sono sign?

Back 64

Trisomy 21

Double bubble sign.

Front 65

Esophageal atresia, is a stomach visualized?

Polyhdramnios is visualized.

Back 65

No stomach bubble identified.

Front 66

Eval the bowel and compare to bone. If brighter, cause can be?

Back 66

Trisomy 21, cystic fibrosis

Front 67

You can diagnose this after 12 weeks, elevated maternal AFP, Eval at site of umbilical cord insertion

Back 67

Anterior abdominal wall defect.

Front 68

You can diagnose this after 12 weeks, elevated maternal AFP, Eval at site of umbilical cord insertion

Back 68

Anterior abdominal wall defect.

Front 69

What are the four embryonic folds?

Back 69

Caudal- Bladder Extrophy

Cephalic- ectopia cordis

2 lateral- Omphalocele

Front 70

This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding?

Back 70

Omphalocele

Front 71

This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding?

Back 71

Omphalocele

Front 72

This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities.

Back 72

Gastroschisis

Front 73

This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding?

Back 73

Omphalocele

Front 74

This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities.

Back 74

Gastroschisis

Front 75

Failure fusion of lateral folds in thoracic region. Failure of development of diaphragm. Diaphragmatic hernia, Midline abd defect, cardiac abnormalities.

Back 75

Pentalogy of Cantrell

Front 76

This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding?

Back 76

Omphalocele

Front 77

This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities.

Back 77

Gastroschisis

Front 78

Failure fusion of lateral folds in thoracic region. Failure of development of diaphragm. Diaphragmatic hernia, Midline abd defect, cardiac abnormalities.

Back 78

Pentalogy of Cantrell

Front 79

Visual of limb defect in utero patient. Encephalocele and facial defects. Aka failure of closure of ventral body wall.

Back 79

Limb body wall complex

Front 80

This pathology is associated with chromosomal abnormalities. Covered by peritoneum, it is at the base of umbilical cord site. Finding?

Back 80

Omphalocele

Front 81

This occurs at the right side of the cord insertion, not covered by peritoneum, free floating in amniotic fluid, not assoc with chromosomal abnormalities.

Back 81

Gastroschisis

Front 82

Failure fusion of lateral folds in thoracic region. Failure of development of diaphragm. Diaphragmatic hernia, Midline abd defect, cardiac abnormalities.

Back 82

Pentalogy of Cantrell

Front 83

Visual of limb defect in utero patient. Encephalocele and facial defects. Aka failure of closure of ventral body wall.

Back 83

Limb body wall complex

Front 84

Inability to identify bladder, abd wall mass, umbilicus inferiorly displaced. Isolated defect.

Back 84

Bladder exstrophy

Front 85

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.

Back 85

Bowel atresia or obstruction

Front 86

This is an outpouching of the small intestine. Failure of absorption of the vitelline duct. This is the most common malformation of the midgut?

Back 86

Meckels Diverticulum

Front 87

Known as double bubble. Assoc with poly and trisomy 21. Finding?

Back 87

Duodenal atresia

Front 88

Known as double bubble. Assoc with poly and trisomy 21. Finding?

Back 88

Duodenal atresia

Front 89

Poor in non immune Hydrops, fluid in abdominal area. Bowel perforation is a cause. Idiopathic, rupture, intrauterine infection, hydrometrocolpos. Finding?

Back 89

Ascites

Front 90

Known as double bubble. Assoc with poly and trisomy 21. Finding?

Back 90

Duodenal atresia

Front 91

Poor in non immune Hydrops, fluid in abdominal area. Bowel perforation is a cause. Idiopathic, rupture, intrauterine infection, hydrometrocolpos. Finding?

Back 91

Ascites

Front 92

Limb body wall complex most common on what side?

AssociTd with?

Back 92

Left side.

Assoc with ABS, anencephaly, encephalocele, facial cleft.

Front 93

Omphalocele is assoc with?

Back 93

Trisomy 13, 18. Two lateral fold fail to fuse.

Front 94

With gastroschisis, what labs will be elevated?

Back 94

AFP

Front 95

Beckwith Weidman syndrome is assoc with?

Back 95

Macroglossia, omphalocele, visceromegaly.

Front 96

Bladder exstrophy ?

Cloacal exstrophy?

Back 96

Bladder exstrophy: bladder outside body.

Cloacal- bladder and rectum, imperforated anus.

vagina, UB, rectum fuse together.

Front 97

Prune belly syndrome is associated to?

Back 97

Trisomy 13,18. AFP low.

Front 98

Most common renal tumor in neonates?

Back 98

Mesoblastic Nephroma

Front 99

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 99

Thanatotrophic Dysplasia

Achondroplasia

Front 100

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 100

Thanatotrophic Dysplasia

Achondroplasia

Front 101

Achondroplasia, differentiate? Which is more lethal?

Back 101

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 102

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 102

Thanatotrophic Dysplasia

Achondroplasia

Front 103

Achondroplasia, differentiate? Which is more lethal?

Back 103

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 104

Explain Achondrogenesis?

Back 104

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 105

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 105

Thanatotrophic Dysplasia

Achondroplasia

Front 106

Achondroplasia, differentiate? Which is more lethal?

Back 106

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 107

Explain Achondrogenesis?

Back 107

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 108

Osteogenesis imperfects; what is the mildest form and most severe?

Back 108

Mildest- Type 1

Severe- type 2

Front 109

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 109

Thanatotrophic Dysplasia

Achondroplasia

Front 110

Achondroplasia, differentiate? Which is more lethal?

Back 110

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 111

Explain Achondrogenesis?

Back 111

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 112

Osteogenesis imperfects; what is the mildest form and most severe?

Back 112

Mildest- Type 1

Severe- type 2

Front 113

OI type 1, II, III, IV?

Back 113

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

Front 114

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 114

Thanatotrophic Dysplasia

Achondroplasia

Front 115

Achondroplasia, differentiate? Which is more lethal?

Back 115

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 116

Explain Achondrogenesis?

Back 116

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 117

Osteogenesis imperfects; what is the mildest form and most severe?

Back 117

Mildest- Type 1

Severe- type 2

Front 118

OI type 1, II, III, IV?

Back 118

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

Front 119

Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity.

Back 119

Congenital hypophosphatasia

Front 120

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 120

Thanatotrophic Dysplasia

Achondroplasia

Front 121

Achondroplasia, differentiate? Which is more lethal?

Back 121

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 122

Explain Achondrogenesis?

Back 122

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 123

Osteogenesis imperfects; what is the mildest form and most severe?

Back 123

Mildest- Type 1

Severe- type 2

Front 124

OI type 1, II, III, IV?

Back 124

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

Front 125

Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity.

Back 125

Congenital hypophosphatasia

Front 126

Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect?

Back 126

Diastrophic dysplasia (Non lethal)

Front 127

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 127

Thanatotrophic Dysplasia

Achondroplasia

Front 128

Achondroplasia, differentiate? Which is more lethal?

Back 128

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 129

Explain Achondrogenesis?

Back 129

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 130

Osteogenesis imperfects; what is the mildest form and most severe?

Back 130

Mildest- Type 1

Severe- type 2

Front 131

OI type 1, II, III, IV?

Back 131

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

Front 132

Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity.

Back 132

Congenital hypophosphatasia

Front 133

Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect?

Back 133

Diastrophic dysplasia (Non lethal)

Front 134

This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding?

Back 134

Camptomelic Dysplasia (Lethal)

Front 135

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 135

Thanatotrophic Dysplasia

Achondroplasia

Front 136

Achondroplasia, differentiate? Which is more lethal?

Back 136

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 137

Explain Achondrogenesis?

Back 137

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 138

Osteogenesis imperfects; what is the mildest form and most severe?

Back 138

Mildest- Type 1

Severe- type 2

Front 139

OI type 1, II, III, IV?

Back 139

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

Front 140

Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity.

Back 140

Congenital hypophosphatasia

Front 141

Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect?

Back 141

Diastrophic dysplasia (Non lethal)

Front 142

This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding?

Back 142

Camptomelic Dysplasia (Lethal)

Front 143

Arms / legs malformation.Facial abnormalities, assoc with chromosomal abnormalities. Bilateral cleft palate / lip, hypertelorism, microcephaly, cardiovascular, renal/ Gi anomalies.

Back 143

Robert syndrome (Pseudothalidomide)

Front 144

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 144

Thanatotrophic Dysplasia

Achondroplasia

Front 145

Achondroplasia, differentiate? Which is more lethal?

Back 145

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 146

Explain Achondrogenesis?

Back 146

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 147

Osteogenesis imperfects; what is the mildest form and most severe?

Back 147

Mildest- Type 1

Severe- type 2

Front 148

OI type 1, II, III, IV?

Back 148

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

Front 149

Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity.

Back 149

Congenital hypophosphatasia

Front 150

Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect?

Back 150

Diastrophic dysplasia (Non lethal)

Front 151

This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding?

Back 151

Camptomelic Dysplasia (Lethal)

Front 152

Arms / legs malformation.Facial abnormalities, assoc with chromosomal abnormalities. Bilateral cleft palate / lip, hypertelorism, microcephaly, cardiovascular, renal/ Gi anomalies.

Back 152

Robert syndrome (Pseudothalidomide)

Front 153

This is assoc with maternal diabetes, effects lumbar, sacral, and lower limbs.

Back 153

Causal regression syndrome

Front 154

What’s the most common lethal skeletal dysplasia?

Most common non lethal skeletal dysplasia?

Back 154

Thanatotrophic Dysplasia

Achondroplasia

Front 155

Fusion of lower extremities/ male dominance, absent sacrum, associated with oligo, diabetic, Single umbilical artery, finding?

Back 155

Sirenomelia

Front 156

Achondroplasia, differentiate? Which is more lethal?

Back 156

Type 1: Heterozygous Achondroplasia: inherited from one parent, normal life span.

Type 2: Homozygous achondroplasia; Lethal. Inherited from two parents. Narrow thorax.

Front 157

Explain Achondrogenesis?

Back 157

Type 1 - Parenti Fraccaro, lethal; more severe. Transmit in autosomal recessive mode.

Type 2: Langer Saldino less severe, less common. Prognosis poor.

Front 158

Osteogenesis imperfects; what is the mildest form and most severe?

Back 158

Mildest- Type 1

Severe- type 2

Front 159

OI type 1, II, III, IV?

Back 159

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

Front 160

Hypomineralization of long bones cause by alkaline phosphatase deficiency. Bowed extremities, fractured, small thorax cavity.

Back 160

Congenital hypophosphatasia

Front 161

Under 4 feet, talipes, cleft palate, micrognathia, scoliosis, Hand abnormalities, suspect?

Back 161

Diastrophic dysplasia (Non lethal)

Front 162

This is a bent bone. Long bond bow, infants die because of pulm hypoplasia , DD, mentally retarded. Finding?

Back 162

Camptomelic Dysplasia (Lethal)

Front 163

Arms / legs malformation.Facial abnormalities, assoc with chromosomal abnormalities. Bilateral cleft palate / lip, hypertelorism, microcephaly, cardiovascular, renal/ Gi anomalies.

Back 163

Robert syndrome (Pseudothalidomide)

Front 164

This is assoc with maternal diabetes, effects lumbar, sacral, and lower limbs.

Back 164

Causal regression syndrome

Front 165

Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin?

Back 165

Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia.

Front 166

Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin?

Back 166

Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia.

Front 167

Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding?

Back 167

Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia

Front 168

Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin?

Back 168

Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia.

Front 169

Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding?

Back 169

Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia

Front 170

Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together.

Back 170

Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia.

Front 171

Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin?

Back 171

Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia.

Front 172

Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding?

Back 172

Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia

Front 173

Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together.

Back 173

Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia.

Front 174

What are the non lethal skeletal dysplasia?

Back 174

Heterozygous Achondroplasia, Osteogenesis 1, 3,4, Ellis Vancrepveld, CRS, VACTERL syndrome, hand/ foot syndromes.

Front 175

Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin?

Back 175

Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia.

Front 176

Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding?

Back 176

Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia

Front 177

Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together.

Back 177

Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia.

Front 178

What are the non lethal skeletal dysplasia?

Back 178

Heterozygous Achondroplasia, Osteogenesis 1, 3,4, Ellis Vancrepveld, CRS, VACTERL syndrome, hand/ foot syndromes.

Front 179

Permanent bent / straight position. Clenched hands, flexed arms, poly or oligo present, finding?

Back 179

Arthrogryposis multiplexcongenital

Front 180

Small thorax, rhizomelia, renal dysplasia, polydactyl. Findin?

Back 180

Jeune’s syndrome AKA Asphyxiating Thoracic Dysplasia.

Front 181

Narrow thorax, pulm hypoplasia, most common ASD. Thin hair. Hypoplastic nails, abnormal teeth, short stature. Finding?

Back 181

Ellis Van Crepveld Syndrome AKA Chondroectodermal Dysplasia

Front 182

Need to Identify at least 3, what pathology would need to be seen. These anomalies occur together.

Back 182

Vertebral defects, anal atresia, cardiac defects, transesophageal fistula, renal anomaly, limb dysplasia.

Front 183

What are the non lethal skeletal dysplasia?

Back 183

Heterozygous Achondroplasia, Osteogenesis 1, 3,4, Ellis Vancrepveld, CRS, VACTERL syndrome, hand/ foot syndromes.

Front 184

Permanent bent / straight position. Clenched hands, flexed arms, poly or oligo present, finding?

Back 184

Arthrogryposis multiplexcongenital

Front 185

Pulm hypoplasia, Rocker bottom feet, clenched hands, facial abnormalities, IUGR, micrognathia, poly, trisomy 18. Finding?

Back 185

Pena Shokeir Syndrome