Infant with abnormal pigmentation, malformations, and immune deficiency.
An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.
D000015:Abnormalities, Multiple; D002972:Cleft Palate / Q000150:complications; D004374:Ductus Arteriosus, Patent / Q000150:complications; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007223:Infant; D007231:Infant, Newborn; D008032:Limbic System / Q000002:abnormalities; D008297:Male; D010859:Pigmentation Disorders / Q000150:complications*; D013601:T-Lymphocytes / Q000276:immunology