title: [Cockayne syndrome and epidermolysis bullosa dystrophica (Hallopeau-Siemens). Simultaneous occurrence in a family].
abstract: A Turkish family with four children is described, two boys suffering from Cockayne's syndrome and a girl from recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens). The outstanding features in the brothers are a pronounced delay in growth which began in both children at the age of about 1.5 years, progeria-like facial features, and a high degree of light sensitivity noticed very soon after birth. The daughter died of septicemia at the age of 4 years. Both diseases are rare and probably the consequence of extremely high consanguinity.
mesh_terms: D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004392:Dwarfism / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male
vernacular_title: Cockayne-Syndrom und Epidermolysis bullosa dystrophica (Hallopeau-Siemens). Gleichzeitiges Auftreten in einer Familie.