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Article

CHILD syndrome caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomerase

14 Feb 2000

Abstract excerpt

CHILD (congenital hemidysplasia, ichthyosis, and limb defects) syndrome is a rare, usually sporadic disorder associated with unilateral distribution of ichthyosiform skin lesions, limb defects, punctate calcifications of cartilaginous structures, and visceral anomalies. CHILD syndrome shares some manifestations with X-linked dominant Conradi-Hünermann syndrome (CDPX2), although the skeletal defects and skin...

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Identifiers

PMID: 10710233
DOI: 10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f

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Source receipt: pubmed, retrieved 7 Sept 2026.

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CHILD syndrome caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomerasePMID 10710233Read ↗

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