Syndromes

Question 1

Diamond Blackfan syndrome

Answer 1

Due to defect in erythroid progenitor cells leading to increased apoptosis: macrocytic anemia, low retic count, and congenital anomalies.
P/w: pallow in neonate within 1st yr at average age of 3 months.

Question 2

Wiskott Aldrich Syndrome

Answer 2

X-linked disorder: Eczema, thrombocytopenia and hypogammaglobulinemia

Question 3

Fanconi Anemia

Answer 3

Autosomal recessive disorder characterized by pancytopenia and macrocytosis. Average age od dx: 8 yrs. Associated with cafe-au-lait spots, microcephaly, micropthalmia, shot stature, horseshoe kidneys and absent thumbs

Question 4

Marfan’s Syndrome

Answer 4

Cause: defects in fibrilin gene on chromosome 15
Clinical features:
1) Skeletal: Tall stature, long extremities, long fingers, scoliosis, chest wall deformities (pectus excavatum),
2) Ocular: upward lens subluxation and retinal detachment
3) CV: aortic root dissection, w/ or w/o dissection, mitral valve prolapse, aortic regurg
DX: clinical. rule out homocystinurea
Complications: retinal detachment ( ophtalmologic observation), endocarditis ( prophylaxis) and sudden death ( decrease HTN with beta blockade and refrain from physical sport to decrease chance of dissection

Question 5

Prader-Wili Syndrome

Answer 5

Cause: Absence in region of paternally derived chromosome 15
Clinical Features:
Craniofacial: almond shaped eyes, down-turned fish-like mouth
Growth: failure to thrive in infancy due to feeding difficulties and obesity in childhood due to hyperphagia. short stature with small hands and feet
Neuro: hypotonia leading to poor sucking and decreased feeding developmental delay, mental retardation, learning disability, and behavioral problems.
hypogonadism: small penis, small testes, cryptorchidism
Dx; FISH
Complications:
Infancy: failure to thrive to due hypertonia
Childhood: obesity causes obstructive sleep apnea
Adulthood: obesity causes cardiac disease, DM type 2. Maybe psych issues.

Question 6

Angelman Syndrome (happy puppet)

Answer 6

Cause: deletion of a region of maternally derived chromosome 15
Clinical features:
Neuro: jerky arm movements, ataxia, and paroxysms of inappropriate laughter, mental retardation is severe with significant speech delay.
Craniofacial: small wide head, large mouth with widely spaced teeth, tongue protrusion, and prognathia ( protrusion of the jaw) Most individuals have blond hair and pale blue deep-set eyes.
Dx: FISH

Question 7

Noonan Syndrome

Answer 7

Cause: a gene on chromosome 12. Males but females can be affected
Clinical features:
Skeletal: short webbed neck and low hairline, hypertelorism ( wide spaced eyes), epicanthal skin folds down-slanting palpebral fissures and low set ears.
Cardiac: right sided usually pulmonary valve stenosis ( Turner’s have left sided)
Mental retardation
Dx: clinical

Question 8

DiGeorge

Answer 8

Cause: defect in the structures derived from third and fourth pharyngeal pouches. ( deletion on chromosome 22)
Clinical features:
Craniofacial: short palpebral fissures, small chin, ear anomalies
Cardiac: aortic arch anomalies, VSD, tet fallot
Thymus and parathyroid hypoplasia: cell-mediated immunodeficiency and severe hypocalcemia
Dx: FISH
Complications: infections ( due to cell-mediated immunodeficiency) Seizures due to hypocalcemia

Question 9

Velocardiofacial syndrome

Answer 9

Cause: deletion on chromosome 15
Clinical features:
Craniofacial: cleft palat, wide prominent nose with squared nasal root, short chin, fish shaped mouth
Cardiac: VSD, right sided arch
Neuro: neonatal hypotonia, learning disabilities, perservative behavior
Dx: FISH

Question 10

Ehlers-Danlos syndrome

Answer 10

Cause: Defects in Type V collagen
Clinical Features:
Skeletal: hyperextensible joints, scoliosis, joint dislocation
Dermatologic: Soft velvety fragile skin. Small lacerations = big wounds that heel poorly with broad atrophic paper thin scars
Cardiac: aortic root dilation, mitral valve prolapse and aortic regurgitation. Fragile vessels leading to easy bruising
GI: constipation, rectal prolapse, and hernias
Diagnosis: clinical
Complications: aortic dissections, and GI bleeding due to vessel fragility

Question 11

Osteogenesis Imperfecta

Answer 11

Cause: defect in Type I collagen

Clinical Features: Blue Sclera

Question 12

cataracts, seizures, hepatosplenomeagaly, prolonged neonatal jaundice, and purpura

Answer 12

congenital CMV