title: The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
abstract: 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 fingers to complete absence of an extremity. In addition, ipsilateral hypoplasia of other parts of the skeleton, as well as defects of the brain and the viscera are found. In some cases, ipsilateral punctate epiphyseal calcifications have been observed. Two further cases of this syndrome are reported, and a review of 18 previous observations is presented. The ratio of females to males is 19 : 1. Apparently, the CHILD syndrome is genetically determined. Arguments are presented in favor of the hypothesis that the conditions is due to an X-linked dominant gene lethal in hemizygous males.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis; D017880:Limb Deformities, Congenital; D012737:Sex Factors; D013577:Syndrome