19 avr. 1981 - Hydrolethalus syndrome

Description:

lethal genetic syndrome characterised by multiple developmental defects of fetus which include

midline malformations
cleft lip + / - palate
CNS malformations
fetal hydrocephalus
agenesis of the corpus callosum
Dandy-Walker malformation
absent midline structures of the brain
micrognathia / microgenia
fetal limb anomalies
polydactyly (post-axial in the hands and pre-axial in the feet)
club feet
autosomal recessive inheritance pattern is often suspected and it is thought to be caused by a missense mutation in a novel gene HYLS1

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