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10 Cards in this Set
- Front
- Back
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Beckwith-Wiedemann Syndrome
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- LGA, macroglossia, omphalocele, mental retardation, hypoglycaemia at birth, hemihypertrophy, visceromegaly
- most common overgrowth syndrome of infancy - complex inheritance - chr 11p abnormalities -ass. with Wilms tumour before 8 yrs age (5% risk) |
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Smith-Lemli-Opitz syndrome
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-AR inheritance, defect in cholesterol synthesis
-Deficiency in enzyme 3 beta-hydroxysterol-delta 7-reductase (converts 7 dehydrocholesterol to cholesterol) -reduced cholesterol levels, elevated 7DHC levels/precursors -Dysmorphism, microcephaly, 2nd-toe and 3rd-toe syndactyly, other malformations, MR -If severe - miscarriage/stillborn |
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Miller-Dieker syndrome
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- accounts for 15% of lissencephaly
- characteristic facies: prominent forehead, bitemporal hollowing, anteverted nostrils, prominent upper lip, micrognathia - LIS-1 gene is deleted on chromos 17p13.3 |
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Aicardi syndrome
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- associated with agenesis of corpus callosum
- only females affected - AED-resistant seizures - EEG: independent activity from both cerebral hemispheres - severe mental retardation - abnormal vertebrae - characteristic finding: retinal abnormalities |
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Mobius syndrome
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- congenital abducens and facial nerve paralysis
- bilateral facial weakness causing feeding difficulties, no lateral gaze (strabismus) - often have normal development - delayed speech due to poor facial movements |
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Li-Fraumeni
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- rare, AD syndrome
- increased risk of cancer - cancer starts at a young age - wide variety of cancer types in one person - must have affected family member to meet criteria - de novo somatic mutations in p53 gene, vs inherited mutation in 1 of 2 p53 genes (70%) |
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Denys-Drash
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WT1 missense mutation
- early onset renal failure - male pseudohermaphrodism - increased risk of Wilms tumour |
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WAGR
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Del 11p13 (WT1 and PAX6 loci)
- Aniridia (loss of PAX6) - striking loss of the iris - Genitourinary abnormalities: cryptorchidism, streak ovaries, bicornate uterus, ambiguous genitalia (result from loss of 1 WT1 allele) - mental Retardation (PAX6) - increased risk of Wilm's tumour (if lose 2nd WT1 allele) (>30%) |
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10% of Wilms tumour cases are associated with conditions or syndromes. Which syndromes? (3)
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- WAGR
- Denys Drash - Beckwith-Wiedemann (Lower risk: hemihypertrophy, sporadic aniridia, GU abnormalities, Pearlman syndrome, Sotos Syndrome, NF, vWD) |
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McCune Albright syndrome
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-precocious puberty (autonomous endocrine hyperfunction)
-polyostotic disease (fibrous dysplasia) -cutaneous pigmentation (cafe au lait) |
