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Genetic Disorders > Peds > Flashcards

Peds Flashcards

1
Q

Noonan syndrome inheritance pattern

A

AD

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2
Q

Noonan syndrome cardiac defect

A

Pulmonic stenosis (20-50%), HCOM

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3
Q

Noonan syndrome features

A

cryptorchidism, downslanting palpebral fissures, heart defects (pulm sten), hypotonia, cognitive difficulties, short stature, webbed neck

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4
Q

Common presentation of Turner Syndrome

A

16yo female, short, amenorrhea, no secondary sex characteristics

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5
Q

Cardiac defects of turners

A

Bicuspid aortic valve, coarctation of aorta

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6
Q

NF1 diagnostic criteria

A 
Need at least 2:
6 or more café au lait macules (at least 5 mm before puberty and 15 mm after)
Axillary or groin freckling
2 or more neurofibromas
Lisch nodules (iris hamartomas)
Optic glioma
Osseous lesions (sphenoid or tibial dysplasia)
Positive family history
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7
Q

features of DiGeorge syndrome

A

CATCH 22: Cardiac (TOF, VSD), abnormal facies (long face, narrow palpebral fissures, bulbous nose), Thymus hypoplasia, Clefts, hypocalcemia. psych disorders

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8
Q

Fragile X cardiac defect

A

MVP

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9
Q

Trisomy 13

A

cleft lip, ocular hypotelorism, low set ears, holoprosencephaly, micropthalmia, polydactyly, cardiac malformations, visceral and genital malformations

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10
Q

Trisomy 18

A

closed fists with index finger overlapping 3rd digit and 5th digit overlapping 4th , short sternum, rocker bottom feet, microcephaly, micrognathia, cardiac and renal malformations

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11
Q

Williams syndrome genetics

A

7q11.23 deletion

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12
Q

Williams syndrome cardiac defect

A

Supravalvular aortic stenosis

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13
Q

Williams syndrome features

A

Round face with full lips and cheeks, long philtrum, strabismus, very friendly, mild MR, eye puffiness, supravalvular aortic stenosis, endo abnormalities (DM, hypercalc, hypothyr), congenital anomalies of kidney, hearing and vision issues

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14
Q

Prader-WIlli genetics

A

paternal deletion of chromosome 15 (imprinting) - when deletion of portion of chromosome 15 is inherited from the father. (vs. when inherited from mother = angelman) this type of genetics causes 70% of these syndromes OR 30% is caused by uniparental disomy (failure of disjunction in meiosis). In prader-willi, child gets both copies of maternal chromosome 15 thus missed out on the paternally active genes

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15
Q

Prader-Willi features

A

Feeding issues initially then voracious appetite and obesity. small hands and feet, hypogonadism, MR

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16
Q

Angelman genetics

A

deletion of 15 maternal imprinting. when deletion of portion of chromosome 15 is inherited from the mother. this type of genetics causes 70% of these syndromes OR 30% is caused by uniparental disomy (failure of disjunction in meiosis). In angelman, child gets both copies of paternal chromosome 15 thus missed out on the maternally active genes

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17
Q

Angelman features

A

hypotonia, fair complexion, seizures, inappropriate laughter, poor speech, severe MR

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18
Q

Alagille Syndrome

A

bile duct paucity with cholestasis, cardiac defects (pulm a stenosis), butterfly vertebrae

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19
Q

Klinefelter syndome genetics

A

47XXY

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20
Q

Klinefelter clinical features

A

hypogonadism and infertility, secondary sex characteristics late, gynecomastia, may have behavior issues, mild MR,

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21
Q

MSUD defect

A

defective branched chain alpha ketoacid dehydrogenase

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22
Q

MSUD clinical features

A

Poor feeding, coma, vomiting in first week. hypertonicity, hypoglycemia, ketosis

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23
Q

tay sachs enzyme defect

A

b hexosaminidases - lysosomal storage

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24
Q

Tay Sachs features

A

mental detioration, spasticity, cherry red spot

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25
Q

Gaucher disease defect

A

glucocerebrosidase - lysosomal storage

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26
Q

Gaucher disease features

A

HSM, mental detioration, myoclonus, spasticity

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27
Q

Ebstein anomaly

A

Annulus of tricuspid in correct place, but valves are stuck to right ventricle or displaced. Causes tricuspid regurgitation. Often have associated PFO or ASD. Risk factor is lithium during pregnancy. Associated with WPW syndrome.

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28
Q

CHARGE syndrome

A

Coloboma, Heart defect (ASD, VSD), atresia of choanae, Retardation of growth, GU abnormalities, Ear abnormalities

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29
Q

Galactosemia features

A

Neonatal cataracts, ovarian failure, boys have normal fertility, developmental and speech delays are common even if follow strict dietary restrictions, intellectual disability, liver disease, *cataracts reversible with diet changes.

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30
Q

Landau Kleffner Syndrome

A

Children who have normally acquired skills gradually or suddenly develop progressive aphasia between 3-7 yo. Acquired speech delay EEG pattern that shows electrical status epilepticus during slow-wave sleep. 80% have clinical seizures. Treat with IVIG, steroids, AEDs

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31
Q

How do you lower ammonia levels?

A

If greater than 200mcmol/L level must be reduced with benzoate and phenylacetate, if greater than 600 = dialysis

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32
Q

What disorders cause increased ammonia?

A

Prorionic Acidemia, methylmalonic Acidemia, fatty acid oxidation defects, Urea cycle defects,

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33
Q

Features of organic acidemias

A

Elevated Ammonia, Acidotic, Anion Gap, ketonuria. Usually present in first 2 days of life after protein has been introduced.

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34
Q

Treatment of methylmalonic Acidemia

A

Presents with tachypnea, poor feeding and lethargy. Elevated AG. may respond to B12

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35
Q

How to test for defects in fatty acid metabolism?

A

plasma acylcarnitine profile

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36
Q

Features of fatty acid metabolism defect

A

hypoglycemia, hepatomegaly, lethargy. NO reducing substances or ketones in urine. normal serum aa’s

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37
Q

How do urea cycle defects present?

A

hyperammonemia, no acidosis. Usually have symptom-free period followed by hypotonia and coma. no ketonuria. Sometimes have hepatomegaly, no hypoglycemia

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38
Q

DDx for hypoglycemia in infants

A

galactosemia, inherited fructose intolerance, IDM

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39
Q

Clinical features of fructose intolerance

A

seizures right after a meal and a child that stays away from sweets

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40
Q

Phenylketonuria

A

Most common amino acid disorder. 1:15000. Does not show up until has had 24 hours of protein intake. Moderate MR, autism, seizures, hypopigmentation, eczema. Treat with low phenylalanine diet

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41
Q

Homocystinuria

A

Clinical features: tall, scoliosis, osteoporosis, mild MR, ectopia lentis, hypercoag, stroke. Defect in cystathione beta synthetase deficiency. Supplement with betaine, folate, pyridoxine, ASA. Confirmation test measure methionine and homocysteine levels

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42
Q

MCAD

A

Hypoglycemia without ketonuria, at risk for coma, SIDS. Carnitine supplementation, avoid hypoglycemia

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43
Q

What syndromes cause elevated ammonia?

A

Urea cycle disorders, organic acidemias, biotinidase deficiency, reye syndrome

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44
Q

Treatment of urea cycle disorders

A

Avoid protein. Prevent protein catabolism - high calorie diet, supplement with arg. Utilize NH3 scavengers like phenylacetate, sodium benzoate.

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45
Q

What is the most common urea cycle defect?

A

OTC deficiency 1:14,000

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46
Q

Inheritance pattern of OTC deficiency

A

x linked

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47
Q

MELAS

A

Mitochondrial encephalopathy, lactic acidosis, and stroke like episodes. Maternal mitochondrial inheritance. Diagnose by mitochondrial mutational analysis. Features - myopathy, encephalopathy, lactic acidosis, stroke like episodes, shortness, deafness, DM

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48
Q

Gaucher Disease

A

Lysosomal storage disease. Painless splenomegaly, thrombocytopenia, excessive bleeding, bone pain, pathologic fractures, mod MR. Defect is B glucosidase def. Test for glucocerebrosidase

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49
Q

Tay-Sachs

A

Lysosomal storage disease. Developmental regression, failure to thrive, cherry red fovea, blindness, seizures, death by age 2 usually. Defect in hex A

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50
Q

Hurler Syndrome

A

lysosomal storage disease of mucopolysaccharide. Developmental regression, coarse features, organomegaly, corneal clouding. Defect in iduronidase. Treat with enzyme replacement or stem cell therapy (BMT)

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51
Q

Hunter Syndrome

A

XLR. Developmental regression, coarse facial features, organomegayl. Treat with BMT, enzyme replacement. Hearing deficits, but no corneal clouding

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52
Q

Rett Disorder

A

Normal development in the first 6 months then shows signs of autism, receptive and expressive language delay, psychomotor retardation, decreased head growth, poor coordination and seizures. Usually in females. Mutation in MECP2

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53
Q

Von Gierke Disease (glycogen storage disorder 1)

A

Defect in glucose 6 phosphatase. Hypoglycemic seizures, but more often they are diagnosed between 3 and 4 months of age with evidence of hepatomegaly, lactic acidosis, elevated lipid and uric acid values, and symptomatic hypoglycemia. Failure to thrive. Nephrolithiasis/renomegaly/renal dz, hepatic adenomas, osteoporosis, PCOS. Can have platelet dysfunction (type 1a) or WBC dysfunction/neutropenia (1b)

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54
Q

Cori Disease

A

Glycogen storage disease type III. Debrancher enzyme deficiency. Like Type I, presents with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation.
No nephromegaly.
Normal lactic acid and uric acid levels.
Liver transaminases are elevated.
Hepatic symptoms improve after puberty, but muscle weakness may occur later in adulthood (20’s-30’s).

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55
Q

Andersen Disease

A

Glycogen Storage Disorder type IV. Branching enzyme deficiency. Unique because problem is with glycogen synthesis.
Presents in first few months with hepatosplenomegaly and FTT.
Progressive cirrhosis with death usually <5yo.
Hypoglycemia is not an issue (except with very severe cirrhosis). Treatment with transplant

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56
Q

Hers Disease

A

Glycogen storage disease type VI. Liver phosphorylase deficiency. Few cases, benign course.
Hepatomegaly and growth retardation in early childhood.
Mild hypoglycemia, hyperlipidemia, and hyperketosis.
Normal uric acid and lactic acid.
Treatment: Symptomatic with frequent meals

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57
Q

Pompe Disease

A

Lysosomal alpha glucosidase deficiency. Muscle glycogen storage disease. Classic infantile onset
Cardiomegaly, hypotonia, death prior to 2yo (cardiorespiratory failure). Very high CK levels.
Rapidly progressive weakness, marcroglossia, mild hepatomegaly.
Muscles appear hypertrophic despite weakness.
Intelligence is generally normal.
Juvenile onset
Primarily skeletal muscle involvement with minimal cardiac involvement.
Adult onset
Slowly progressive, adult onset myopathy

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58
Q

McArdle Disease

A

Muscle dephosphorylase deficiency. Clinical symptoms being in young adulthood.
No muscle glycogen supply available during exercise.
Exercise intolerance, muscle cramps, and episodic rhabdomyolysis.
Dark urine with elevated CK levels after exercise.
In general, treatment is avoidance of symptoms, developing exercise tolerance.

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59
Q

Apert Syndrome

A

AD disorder. Premature closure of the cranial sutures, resulting in craniosynostosis; syndactyly, choanal atresia, wide set eyes and midface hypoplasia, and intellectual disability.

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60
Q

Crouzon Syndrome

A

craniofacial dysostosis, high prominent forehead, shallow orbits resulting in preoptosis and a beak nose. Usually with intracranial anomalies

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61
Q

Klinefelter Syndrome genetics

A

27XXY

62
Q

What causes higher rate of recurrence in Down Syndrome - translocation or nondisjunction?

A

translocation - about 15% risk of recurrence. Higher if the partial translocation is from the mother

63
Q

Holt-Oram Syndrome

A

ASD and upper limb defects. Defect in a transcription factor.

64
Q

MCCune Albright features

A

Cafe au lait spots, Early puberty, Abnormal bones (fibrous dysplasia).

65
Q

Lesch Nyan syndrome

A

Self mutilation, intellectual disability, choreiform movements, elevated uric acid levels.

66
Q

Prader-Willi Syndrome

A

Floppy baby, intellectual deficits, obese later in life, takes a lot but with little content, testicles and hands are small and has a large appetite. 2/2 imprinting - either deletion of father’s chromosome 15 or maternal disomy - 2 copies of chromo 15 from the mother

67
Q

Angelman Syndrome

A

Diagnosed between 3-7. Severe devo delay, profound speech impairment, ataxia and other movement disorders, behavioral anomalies like frequent laughter, easy excitability, short attention span. Microcephaly and seizures. 2/2 imprinting - deletion of mothers chromosome 15 or paternal disomy (2 copies of chromo 15 from the father).

68
Q

Beckwith Wiedemann Syndrome

A

Macrosomia, hypoglycemia, hemihypertrophy, macroglossia, omphalocele, hypospadias.

69
Q

Inheritance of hemophilia

A

X linked recessive

70
Q

Inheritance of G6PD

A

X linked

71
Q

Inheritance of Chronic granulomatous Disease

A

X linked

72
Q

Inheritance of Duchennne Muscular Dystrophy

A

X linked

73
Q

Inheritance of Nephrogenic Diabetes Insipidus

A

X linked

74
Q

Inheritance of Retinitis Pigmentosia

A

X linked

75
Q

Inheritance of Wiskott Aldrich

A

X linked

76
Q

Inheritance of Aicardi Syndrom

A

X linked dominant

77
Q

Inheritance of Alport syndrome

A

X linked dominant

78
Q

Aicardi syndrome

A

Macrocephaly, seizures, ocular abnormalities, absence of the corpus collosum,

79
Q

Inheritance of Tuberous Sclerosis

A

AD

80
Q

Inheritance of Retinoblastoma

A

AD

81
Q

Inheritance of Marfan

A

AD

82
Q

Inheritance of Von Willebrand Disease

A

AD

83
Q

Dilantin Syndrome

A

Hypertolerism, epicanthal folds, thin upper lip, smooth philtrum,mental retardation, cardiac abnormalities

84
Q

Isotrentoin embryopathy

A

microcephaly, micropthalmia, hypoplastic ears, truncus arteriosus, absent thymus

85
Q

CHARGE association

A

Coloboma, heart disease, atresia (choanal), Retarded growth and development, GU abnormalities, Ear bnormalities (hearing loss). Intelligence is below normal.

86
Q

VACTER-L

A

Verterbral defects, Anal atresia, Cardiac defects, TEF, Radial hypoplasia and renal anomalies, Limb abnormalities. Presents with single umbilical artery. Intelligence is normal

87
Q

Rubenstein Taybi syndrome

A

Cryptorchidism, broad thumb,

88
Q

Russel-Silver Syndrome

A

Triangular face, growth retardation, blue scleral, limb assymetry. Russell-Silver syndrome is caused by abnormal methylation of the paternal imprinting center of chromosome 11p15.5 or maternal uniparental disomy for chromosome 7 (UPD7).

89
Q

Prune Belly syndrome

A
  1. Cryptorchidism, 2. bladder outlet obstruction 3. pulmonary hypoplasia
90
Q

Treacher Collins

A

AD. Mandibular and maxillary hypoplasia. Atretic ears and conductive hearing loss, small jaw, coloboma of lid, normal intelligence

91
Q

Williams Syndrome

A

Elfin facies, widespaced teeth, upturned nose, cocktail party personality, supravalvular aortic stenosis

92
Q

Fragile X inheritance and how is it in females?

A

X linked, but has unusual features. Caused by a tri[plet repeat that expands 30% carrier females have similar clinical phenotype. If the female is a premutation carrier - increased emotional probs, premature ovarian failure

93
Q

Wolf-Hirschhorn syndrome genetic defect and clinical picture?

A

4p deletion, most are de novo. Greek helmet facies (ocular hypertelorism, prominent glabella, frontal bossing, growth deficiency, microcephaly, beaked nose, hypertension, short philtrum, cardiac anomalies (50%) Seizures (90%)

94
Q

Cri-du-chat snydrome genetics and clinical picture?

A

5p - deletion of short arm. Moon face with telecanthus, down slanting palpebral fissures, hypotonia, short stature, microcephaly, cardiac probs in 33%. cat’s cry 2/2 laryngeal issues

95
Q

Grouchy Syndrome

A

18q deletion; atretic or narrow ear canals, frog like position with legs flexed, carp like mouth

96
Q

Pierre Robin Sequence

A

primary embryologic defect of mandibular hypoplasia - displacement of the tongue -> u shaped cleft palate, micrognathia, respiratory distress and feeding problems

97
Q

What is the most severe type of OI?

A

Type II - results in death in the newborn period due to respiratory insufficiency.

98
Q

OI type III severity, complications, life expectancy

A

Presents in newborn period with many fractures, severe short stature and cant bear their own weight. Associated neuro complications- hydrocephalus and basilar skull invagination.

99
Q

Mild forms of OI?

A

Type I and IV

100
Q

How do you diagnose Marfan syndrome?

A

any 2 of the following major criteria: 1.) ectopia lentis 2.) aortic dilatation 3.) family history. If only one major, need 7 systemic points OR gene testing

101
Q

Aicardi syndrome

A
  1. ) infantile spasms
  2. ) a genesis corpus collosum
  3. ) chorio retinal lacunae

X linked dominant

102
Q

Features of DiGeorge Syndrome

A

Congenital Heart Disease, dysmorphic facial features (low hairline, low set rotated ears, hypertelorism, micrognathia), thymic dysplasia, GU abnormalities, can have clefts, can have devo delay

103
Q

Features of Wiskott Aldrich

A

Thrombocytopenia, eczema, Immunodeficiency, higher risk of autoimmune disease

104
Q

What renal anomaly are patients with NF1 at risk for?

A

Renal artery stenosis

105
Q

Why are carriers of Fragile X unique?

A

30% of carrier females have similar clinical phenotype to that of affected males. A “normal” male could transit the gene to his daughters

106
Q

What is Fragile-X associated tremor/ataxia syndrome?

A

neurodegenerative disorder of older adult premutation carriers (mostly males), >30% carrier males get it, intention tremor and gait ataxia, parkinsonism

107
Q

Features of FAS

A

Other common features of FAS include a “hockey stick” upper palmar crease, “railroad track” upper helix of the ear, ptosis, strabismus, hypoplastic nails, short fifth digits, fifth-finger clinodactyly, and camptodactyly. Relatively common birth defects include cardiac defects, radioulnar synostosis, vertebral segmentation defects, renal anomalies, optic nerve hypoplasia, hearing loss, and pectus deformities. Most children with FAS will have prenatal or postnatal growth retardation and ultimately will develop microcephaly (with head circumference

108
Q

Apert syndrome

A

Premature closure of sutures and syndactyly, choanal atresia and/or intellectual disability

109
Q

Which conditions are more likely with advanced paternal age?

A

achondroplasia and marfans - more likely to have a new spontaneous mutation

110
Q

Why do some female carriers of x linked recessive disorders manifest the disease?

A

1.) inactivation of the x chromosome is a random process within each cell. Sometimes a much higher proportion of x chromosomes with a normal allele are inactivated - these girls are manifesting heterozygotes and usually have a milder condition of the disease (example Hemophilia A) 2.)Some girls only have one X (Turners) 3.) deletions or rearrangements in an X chromosome

111
Q

Myotonic dystrophy

A

triplet repeat disease. AD. variable age of onset and variable severity, anticipation = worse with subsequent generations. More likely to be severe when passed from the mother . Myotonia with progressive weakness and wasting of facial and jaw muscles, myotonia on grip testing - cannot let go easily b/c muscles cant relax). Affects other organ systems - eye, cataract, endo - DM, testicular atrophy, brain - intellectual disability, skin - premature balding.

112
Q

Osteogenesis Imperfecta type 1

A

Mildest form. Decrease in synthesis of collagen type 1. AD. Blue sclera, delayed fontanelle closure, hyperextensible joints, hearing loss, normal stature, multiple fractures before puberty. frequency of fractures decreases in late adolescence, but have osteopenia and wormian bones in sutures. Can have scoliosis and hearing loss in 20s-30s

113
Q

Osteogenesis type 2

A

Most severe form. AD (de novo). death during newborn period due to respiratory insuffiency. Skull very soft. Limbs short and bowed, ribs are beaded from multiple calluses.

114
Q

Osteogenesis type 3

A

Presents in the newborn with multiple fractures. short stature is severe and progressively deforming. blue sclera at birth, but lighten with age. Neuro complications are common - hydrocephalus and basilar skull invagination

115
Q

Osteogenesis type 4

A

Mild form like type 1. Sclera are white. delayed fontanelle closure, fractures at birth. *Tibial bowing

116
Q

VHL Von-Hippel Lindau Syndrome

A

2 or more hemangioblastomas in the CNS or retina OR 1 hemangioblastoma plus 1 of: pheochromocytoma, endolymphatic sac tumors, kidney/pancreatic cysts, RCC, pancreatic or neuroendocrine tumors

117
Q

PTEN Hamartoma syndrome

A

multiple hamartomas - benign and malignant tumors of thyroid, breast, endometrium

118
Q

Fanconi syndrome

A

congenital pancytopenia that usually presents at 5-7 years old. Caused by defective DNA repair genes. Associated with cafe-au-lait spots, extra digits, renal abnormalities, microcephaly

119
Q

Diamond -Blackfan syndrome

A

congenital hypoplastic anemia presenting in infancy with profound anemia by 2-6 months, associated with craniofacial defects, short stature, limb abrnomailties and thrombocytopenia absent radius syndrome.

120
Q

What is hereditary tyrosinemia and how does it differ from type II tyrosinemia?

A

Hereditary is 2/2 deficiency of fumarylacetoacetate hydroxylase and causes build up of succinylacetone. Hepatotoxic. No intellectual disability. Also have RTA/fanconi and rickets. Treat with NTBC, but this can cause elevated tyrosine levels (like type II) which causes corneal ulcers or keratitis, and palm and sole keratitis. 50% of tyrosonemia type 2 have intellectual disability

121
Q

Which disease can cause subdural hematomas and retinal hemorrhages that can be mistaken for child abuse

A

glutaric aciduria type 1, and Menkes disease

122
Q

Odor of sweaty feet should ring a bell for what metabolic disorder?

A

isovaleric acidemia, glutaric Acidemia type 2(less so)

123
Q

Odor of sweaty feet should ring a bell for what metabolic disorder?

A

isovaleric acidemia, glutaric Acidemia type 2 (FA oxidation def)

124
Q

For which IEM can giving IV glucose in critical illness kill the patient?

A

pyruvate dehydrogenase deficiency

125
Q

alkaptonuria

A

In tyrosine metabolism path. Normal tyr levels. Urine turns dark if have been sitting long enoug. Can be asymptomatic until adulthood - usually have normal lifespan. Get deposits of pigment in ears, sclera, joints. Can have aortic root or valve issues

126
Q

Infantile parkinsonism

A

deficiency of tyrosine hydroxylase bc cant make L-dopa. presents in infants

127
Q

Which meds can unmask urea cycle defects?

A

haldol and valproate

128
Q

What is the treatment for most organic acidemias?

A

carnitine

129
Q

What is the triad of multiple carboxylase deficiency

A

this is an organic acidemia. Alopecia, skin rash, encephalopathy

130
Q

which defect in beta oxidation has retinopahty with hypopigmentation

A

LCHAD

131
Q

What is UDP Gal 4 Epimerase deficiency

A

Can be like galactosemia plus hypotonia and SNHL

132
Q

What is Zellweger syndrome?

A

peroxisomal storage disorder. Onset at birth to 1-2 yrs old, loss of skills and progressive course. Characteristic facies with high forehead, epicanthal folds, anteverted nares, cataracts, hearing and vision loss. Abnormal liver function. Calcific stippling of patella and long bones common. Abnormal VLCFA build up

133
Q

Which disorder presents with: absent DTrs, Ataxia, corticospinal tract dysfunction, hypertrophic CM, diabetes

A

Fredrich Ataxia

134
Q

Most concerning skeletal defect in Hurler Syndrome

A

atlantoaxial instability

135
Q

What is diagnostic of MSUd?

A

finding alloisoleucine in the urine

136
Q

what three findings do mitochondria disorders often have

A

ptosis, opthalmoplegia, ragged red fiber myopathy

137
Q

yclassic triad of biotinidase deficiency?

A

alopecia, skin rash, encephalopathy

138
Q

supranuclear vertical gaze palsy, dolls eyes reflex preserved, cataplexy, narcolepsy

A

Neiman Pick disease

139
Q

After exercise, patient has dark urine, muscle cramps and elevated NH4 instead of lactate

A

McArdles disease

140
Q

What disorder occurs in 1-2% of the opoulation and presents as muscle weakness and cramping following vigorous exercise

A

adenylate Deaminase deficiency - CK elevated, but not myoglobinuria. normal muscle biopsy, most are asymptomatic.

141
Q

which defect has cataracts as the only finding?

A

galactokinase deficiency

142
Q

In trisomy 21 what is quad screen - AFP, unconj estriol, hcg, inhibin

A

LOW AFP and LOW estriol, HIGH Hcg, High inhibin

143
Q

Tell me about 47XXX

A

Most common female chromosomal abnormality. mild hypotonia, epicanthal folds, clinodactyly, and long limbs. development delay

144
Q

Pierre Robin sequence

A

primary defect of mandibular hypoplasia -> displacement of tongue -> interrupts closure of palantine ridges -> u shaped cleft palate. Often have respiratory and feeding issues.

145
Q

Goldenhar syndrome

A

orbital distortion, epibulbar lipodermoids on globe, mandibular hypoplasia, ear abnormalities, facial nerve and muscle hypoplasia, Often unilateral defects. Can have associated CHD, TEF, clefts.

146
Q

Proteus syndrome

A

macrodactylt, soft tissue hypertrophy, hemihypertrophy, lymphangiomata, hemangiomata, accerlated growth

147
Q

Difference between diamond blackfan anemia and fanconi anemia

A

FAnconi is pancytopenia, DB is anemia, both have thumb and radial abnormalities, fanconi with facial abnormalities, DB with cardiac, faconi is AR, DB is AD

148
Q

Vertical wrinkles of forehead

A

Miller-Dieker syndrome

149
Q

Klippel Trenaunay syndrome

A

Klippel-Trénaunay syndrome is a condition that impacts the development of blood vessels, soft tissues, and bones with 3 classic features that include a port-wine stain of 1 limb (typically 1 leg), abnormal overgrowth of soft tissues and bones, and venous malformations (varicose veins and a predisposition to deep vein thrombosis).

150
Q

which is a connective tissue disorder that is associated with midfacial hypoplasia, cleft palate, Pierre Robin sequence (PRS), hearing loss, and abnormalities of the eye, including high grade myopia, cataracts, and increased risk for retinal detachment.

A

Stickler syndrome

151
Q

Cornelia De Lange

A

Unibrow, severe limb abnormalities, Intellectual disability, seizures

Genetic Disorders (1 decks)

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