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Article

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

BMJ case reports - 2 Nov 2020

Maceda Ebner Bon Gatus, Kratz Lisa E, Ramos Veronica Marie E, Abacan Mary Ann R

Abstract excerpt

We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alpha-carboxy-4-methyl-cholest-8(9)-en-3beta-ol and several keto-sterols, which are usually below the limit of...

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Share to 3-Hydroxysteroid Dehydrogenases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Genetic Diseases, X-Linked

Share to Ichthyosiform Erythroderma, Congenital

Share to Limb Deformities, Congenital

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Identifiers

PMID: 33139364
DOI: 10.1136/bcr-2020-236859
PMCID: PMC7607564

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