title: The Gorlin-Goltz syndrome: case report.
abstract: Focal dermal hypoplasia is a syndrome characterized by anomalies of cutaneous, osseous, dental and ocular structures. Because of the ocular anomalies, this syndrome should be regarded as a fifth type of phakomatosis. The differences between the fibroblasts obtained from skin lesions and fibroblasts obtained from normal skin and controls could be the demonstration of mosaicism and the consequence of lyonization. The authors present the case of a baby with typical anomalies of the Gorlin-Goltz syndrome and abnormal growth characteristics of skin fibroblasts.
authors.affiliation: 2nd School of Medicine, Naples Eye Clinic, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Manzi
authors.forename: A
authors.initials: A
authors.lastname: Magli
authors.forename: B
authors.initials: B
authors.lastname: Pignalosa
authors.forename: G
authors.initials: G
authors.lastname: Liguori
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D002280:Basal Cell Carcinoma / Q000175:diagnosis*; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D007906:Lens Subluxation / Q000209:etiology; D012160:Retina / Q000002:abnormalities; D012867:Skin / Q000473:pathology; D013576:Syndactyly / Q000209:etiology