A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
نویسندگان
چکیده
We report an unusual phenotype of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome most likely resulting from a novel X-chromosomal microdeletion encompassing the promoter region and exon 1 of the nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein gene, the neighboring gene CETN2, and more than 10 kb of noncoding deoxyribonucleic acid.
منابع مشابه
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of some fi...
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Inborn errors of cholesterol synthesis cause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Because adequate cholesterol is not transported across the placenta, low cholesterol and elevated sterol precursor leve...
متن کاملCongenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome is an X-linked dominant disorder with fatality for male embryos (1, 2). The disorder is caused by mutations in NSDHL (NAD[P]
© 2015 The Authors. doi: 10.2340/00015555-1859 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome is an X-linked dominant disorder with fatality for male embryos (1, 2). The disorder is caused by mutations in NSDHL (NAD[P] H steroid dehydrogenase-like protein), which is of importance in the c...
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ورودعنوان ژورنال:
- Pediatric dermatology
دوره 30 2 شماره
صفحات -
تاریخ انتشار 2013