The CHILD syndrome. Histologic and ultrastructural studies.
A 4 1/2-month-old female infant had cutaneous and musculoskeletal changes consistent with the diagnosis of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. This syndrome encompasses abnormalities of several organ systems, and its origins and pathogenesis are poorly understood. This report describes an additional patient with this uncommon syndrome and includes light and electron microscopic studies of her skin lesions. Our patient's clinical features of meningocele, Shone's syndrome, and the electron microscopic findings have not previously been described in the American literature (to our knowledge) in association with this syndrome.
D000015:Abnormalities, Multiple / Q000473:pathology*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D007223:Infant; D007866:Leg / Q000002:abnormalities*; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*; D013577:Syndrome