Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

[child syndrome]

CHILD syndrome is an acronym for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects . This is an X-linked dominant disorder affecting females with early lethality in hemizygous males . The clinical features are congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral hypoplasia of limbs and other parts of the skeleton as well as defects of the brain , heart , kidney and lung . CHILD syndrome is caused by mutations in the NSDHL (steroid dehydrogenase-like protein ) gene at Xq 28 , which affects cholesterol biosynthesis . A female premature newborn with left side body hemidysplasia and ipsilateral defects of the skin , visceral organs and brain is reported . Analysis of child DNA isolated from skin fibroblasts showed missense mutation c .1046 A >G ;PpY 349 C in the NSDHL gene that could cause the phenotype .