The CHILD syndrome. Histologic and ultrastructural studies. 1987

A A Hebert, and N B Esterly, and K A Holbrook, and J C Hall

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.

UI MeSH Term Description Entries
D007057 Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. Xeroderma,Ichthyoses,Xerodermas
D007223 Infant A child between 1 and 23 months of age. Infants
D007866 Leg The inferior part of the lower extremity between the KNEE and the ANKLE. Legs
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D012867 Skin The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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