eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
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3/2008
vol. 46
 
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abstract:

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

Bogna Schmidt-Sidor
,
Ewa Obersztyn
,
Krystyna Szymańska
,
Jan Wychowski
,
Hanna Mierzewska
,
Teresa Wierzba-Bobrowicz
,
Tomasz Stępień

Folia Neuropathol 2008; 46 (3): 232-237
Online publish date: 2008/09/19
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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 Xq28, 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.1046A>G;PpY349C in the NSDHL gene that could cause the phenotype.
keywords:

premature newborn, body and organs hemihypoplasia, brain hemidysplasia, lissencephaly type II, cerebellar malformation, NSDHL gene mutations, neuropathology

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