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Gorlin syndrome presenting as prenatal chylothorax in a girl
Author(s) -
Geneviève D.,
Walter E.,
Gorry P.,
Jacquemont M. L.,
Dupic L.,
Layet V.,
Munnich A.,
CormierDaire V.,
Dommergues M.,
Lyonnet S.,
Mitanchez D.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1231
Subject(s) - nevoid basal cell carcinoma syndrome , medicine , falx cerebri , pathology , chylothorax , basal cell nevus syndrome , anatomy , basal cell carcinoma , basal cell
Abstract Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition with an estimated prevalence of 1:57 000. GS is associated with congenital malformations and predisposition to neoplasms. The main features observed in patients with GS are basal cell carcinomas, odontogenic keratocysts, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar epidermal cysts, facial dysmorphism, and cerebral falx calcification. More than 100 other clinical manifestations have also been described in the literature including ovarian fibroma, enlarged cerebral ventricles, and lymphatic as well as chylous mesenteric cysts. The Patched (PTCH) gene is responsible for GS when mutated. Here, we report on a prenatal diagnosis of GS in a girl with a chylothorax, a previously unreported feature in GS. We discuss the clinical features observed in this family and we comment on the molecular studies that allowed us to describe a previously unreported Patched gene mutation. Copyright © 2005 John Wiley & Sons, Ltd.