Monday, 3 August 2015

Babies in medicine

Its time for babies! So a list of some babies
1) Blueberry muffin baby (indicates extramedullary
hematopoiesis) - Characteristic of Congenital rubella
syndrome, also in metastaic neuroblastoma
2) Harlequin baby - Harlequin Ichthyosis (autosomal
recessive, ABCA12 gene mutation)
3) Collodion baby - Lamellar Ichthyosis (autosomal
recessive, TGM1 gene mutation)
4) Frog faced Baby - Anencephaly
5) Floppy baby - Infant botulism
6) Grey Baby - Chloramphenicol side effect
(Immature hepatic glucuronidation enzymes)
7) Bronze baby - Conjugated hyperbillirubinemia
8) Blue Baby - Methemoglobinemia
9) Battered Baby (Caffey's whiplash shaken baby
syndrome) - Child abuse
10) Cyclops Baby (single median eye with/without
probocosis) - Holoprosencephaly (sonic hedgehog -shh gene mutation)

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