Genetics

Question 1

severe ID, autism, seizures, hypopigmentation, eczema

Answer 1

PKU, tx diet low in phenylalanine/protein

Question 2

tall, scoliosis, osteoporosis, mild ID, ectopia lentis, hypercoagulability, arterial and venous thrombi, stroke

Answer 2

homocystinuria, methionine test on blood spot, tx supplement with betaine, folate, pyridoxine, ASA

Question 3

neonate with vomiting, jaundice, hepatomegaly, hepatic dysfunction, cataracts, ID, death

Answer 3

galactosemia (GALT deficiency, galactose and lactose free diet)

Question 4

hypoglycemia, NO ketonuria, coma, SIDS

Answer 4

medium chain acyl coenzyme A dehydrogenase deficiency, pAC test, carnitine supplementation

Question 5

hypotonia, seizures, rash, alopecia

Answer 5

biotinidase deficiency, tx biotin supplement

Question 6

hyperammonemia, CNS depression, coma

Answer 6

OTC deficiency (urea cycle disorder), protein-restric, citrulline supplement, NH3 scavenger

Question 7

2-15 yo, short, recurrent HA and V, blind, deaf, diabetes, encephalopathy, lactic acidosis, stroke

Answer 7

MELAS (mitochondrial encephalopathy, lactic acidosis, stroke like episodes), ragged red fibers, tx CoQ10 and carnitine?

Question 8

splenomegaly, thromboyctopenia, bleeding, bone pain, pathologic fractures, ID, Ashkenazi Jew

Answer 8

Gaucher disease, (lysosomal storage disease, leukodystrophies) B-glucosidase deficiency, human enzyme replacement therapy

Question 9

developmental regression, failure to thrive, cherry-red fovea, blind, seizure, death before 2 yo, AShkenazi jew

Answer 9

Tay-Sachs, (lysosomal storage, leukodystrophies), hexosaminidase A deficiency, no tx

Question 10

developmental regression, coarse features, organomegaly

Answer 10

Hurler (AR) or Hunter (XLR) syndrome, mucopolysaccharidoses *lysosomal storage disease, tx stem cell therapy

Question 11

developmental regression, vision losse, white matter changes, adrenal dysfunction

Answer 11

adrenoleukodystrophy (XLR, peroxisomal disorder), tx stem cell

Question 12

macrocephaly, frontal bossing, saddle nose, infantile gibbus progressing to lumbar lordosis, trident hand, tibial bowing, short limbs

Answer 12

Achondroplasia, Fibroblast GF receptor 3, infantile hypotonia, OSA, central apnea rare, ventriculomegaly, lumbar stenosis

Question 13

tall, dolichocephaly, high arched palate, arachnodactyly, joint laxity, pectus, scoliosis, myopia, ectopia lentis, mitral valve prolapse, aortic root dilatation, dural ectasias

Answer 13

Marfan, fibrillin defect, joint instability, visual impairment, aortic insufficiency, aneurysmal rupture death, spontaneous pneumothorax, pulmonary blebs

Question 14

skin hyperelasticity, joint laxity, poor wound healing, bruising, pectus, scoliosis

Answer 14

Ehlers-Danlos, Type III or V collagen defect, joint instability, aneurysmal rupture death type IV

Question 15

osteoporosis, bone fragility, pathologic fractures, dentinogenesis imperfectica, wormian bones occiput, blue sclerae, hearing loss

Answer 15

Osteogenesis imperfectica, type I collagen, pulmonary hypoplasia, death type II, scoliosis, progressive deformities type III, short type IV

Question 16

hypotrichosis, hypodontia, anhidrosis, heat intolerance, atopy, short, mild ID

Answer 16

Anhydrotic ectodermal dysplasia, ectodysplasin defect

Question 17

ASD or VSD heart, finger-like or absent thumb, radial hypoplasia

Answer 17

Holt-Oram syndrome (Heart-Hand syndrome), TBX5 gene defect (transcription factor)

Question 18

short limb, curved long bones, narrow thorax, flat vertebrae, perinatal death

Answer 18

Thanatophoric dysplasia, FGFR3 defect (like achondroplasia), but death from pulmonary hypoplasia

Question 19

symmetric malar and mandibular hypoplasia, ear anomalies, down slanting palpebreal fissures, eyelid coloboma, cleft palate

Answer 19

Treacher COllins Syndrome *mandibulofacial dysostosis, TCOF1 defect, feeding difficulties, hearing loss

Question 20

hemifacial microsomia, ear anomalies, large mouth one side, micrognathia, epibulbar dermoids, coloboma, c spine anomalies

Answer 20

Goldenhar syndrome (facioauriculovertebral spectrum), Stapedial artery disruption leading to branchial arch hypoplasia, feeding difficulties, hearing loss

Question 21

growth retardation, macrocephaly, large fontanelle, blue sclerae, triangular face, limb asymmetry, hypoglycema

Answer 21

Russel-Silver Syndrome, sporadic

Question 22

short, webbed neck, ptosis, pulmonary stenosis, mild ID, broad chest, vertebral anomalies, bleeding diathesis, cryptorchidism

Answer 22

Noonan syndrome, “male” turner, PTPN11 mutation

Question 23

growth retardation, unibrow, low hairline, anteverted nares, maxillary prognathism, long philtrum, carp mouth, ID, cardiac, upper limb anomalies

Answer 23

Cornelia de Lange syndrome, Nipped B like gene

Question 24

female, developmental arrest ~6-12 mo, microcephaly, epilepsy, loss purposeful hand movements, autism, growth failure

Answer 24

Rett Syndrome, XLD

Question 25

CHARGE

Answer 25

Coloboma, Heart anomalies, chonala Atresia, Retarded growth and development, Genital anomalies, Ear anomalies

Question 26

VACTERL

Answer 26

Vertebral anomalies, Anal atresia, Cardiac defects, TE fistula, Esophageal atresia, Renal anomalies, Limb especially radial anomalies. increased in IDM babies

Question 27

short webbed neck, cervical vertebral fusion, hearing loss, laryngeal deformities, congenital heart disease, rib anomalies, upper limb defects, GU anomalies

Answer 27

Klippel-Feil Anomaly

Question 28

multiple fixed joints, midline facial vascular markings, normal intelligence

Answer 28

Amyoplasia (arthrogryposis multiplex congenita)

Question 29

growth deficiency, microcephaly, small palpebral fissures, smooth philtrum, thin upper lip, small distal phalanges and nails, developmental delay, behavioral, mild ID, short angulated 5th finger

Answer 29

Fetal alcohol syndrome

Question 30

hypertelorism, epicanthal folds, flat nasal bridge, small distal phalanges and nails, growth deficiency, developmental delay, ID

Answer 30

fetal dilantin *phenytoin) syndrome

Question 31

IUGR, delay, hypotonia, seizures, apnea, holoprosencephaly, microcephaly, coloboma, cleft lip, polydactyly, clibfoot, VSD, cutis aplasia

Answer 31

Trisomy 13 patau syndrome

Question 32

IUGR, delay, hypertonia, promminent occiput, low set ears, cleft lip, overlapping fingers, rocker bottom feet, VSD, single flexion crease digits

Answer 32

Trisomy 18 (Edward syndrome)

Question 33

heart defects Turner syndrome (3)

Answer 33

aortic coarctation, hypoplastic left ventricle, aortic stenosis

Question 34

tall, obese, female shape, gynecomastia, hypogonadism, infertility

Answer 34

Klinefelter syndrome (XXY)

Question 35

autism, male, ID, echolalia, large ears, pale blue irides, mitral valve prolapse, macroorchidism

Answer 35

Fragile X, CCG repeat, female carriers can have learning difficulties and premature ovarian failure

Question 36

SGA, neonatal hypoglycemia, hypogonadism, small hands, almond eyes, later polyphagia, obesity, short, skin pick, ID

Answer 36

Prader-Willi syndrome, deletion 15q11

Question 37

microcephaly, big mouth, seizures, puppet like gait, laughter, no speech, autism

Answer 37

Angelman syndrome, 15q11 deletion

Question 38

LGA, hypoglycemia, big tongue, ear pits, omphalocele, organomegaly, asymmetric limbs

Answer 38

Beckwith-Wiedemann Syndrome (methylation defect 11p15), risk abdominal tumors Wilms and hepatoblastoma

Question 39

variable growth and ID, cocktail personality, stellate irides, periorbital fullness, long philtrum, full lips, hoarse voice, supravalvular aortic stenosis, hypercalcemia

Answer 39

Williams Syndrome,

Question 40

SGA, ID, high pitched cry, hypotonia, microcephaly, hypertelorism, epicanthal folds, small jaw, low ears

Answer 40

Cri du chat 5p

Question 41

DiGeorge syndrome

Answer 41

22q11.2 deletion, defect fourth branchial and third and fourth pharyngeal pouch. think CATCH 22, Cardiac defects (tetralogy of Fallot), Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia, Developmental delay)

Question 42

CATCH 22 syndrome

Answer 42

way to remember DiGeorge, Cardiac (tetralogy of fallot), Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia

Question 43

absent thymus, tetralogy of fallot, cleft palate, abnormal face. Which lab abnormality?

Answer 43

low calcium. DiGeorge/CATCH22

Question 44

clumsy, weird movements, req squigglies on eye

Answer 44

Ataxia telangiectasia

Question 45

weakness throughout, poor gag, plantar up-going? stroke, myelopathy, myopathy, neuropathy?

Answer 45

myelopathy (UMN), Down atlantoaxial instability

Question 46

12-15 month girl, no head growth, losing language and motor milestones. Chromosome testing, OT and PT, DBP referral, MECP2 gene sequencing, brain MRI?

Answer 46

MECP2, Rett syndrome, acquired microcephaly

Question 47

mix of seizure types, slowing development, no dysmorphic features, normal head

Answer 47

Dravet syndrome

Question 48

nocturnal seizures

Answer 48

Autosomal dominant frontal lobe epilepsy

Question 49

neonate, hypotonia, poor feeding, dysmorphic features, US with smooth cortex and mild ventriculomegaly. MRI brain, MRI spine, chromosomal microarray, urine organic acids?

Answer 49

Microarray (Miller-Dieker syndrome: weird face plus lissencephaly smooth brain)

Question 50

4 yo dev delay, stroke?

Answer 50

Homocystinuria, pAA