title: Robinow Syndrome: a case report.
abstract: We report a case with Robinow syndrome which has been rarely reported in the literature. A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome. Elevated levels of both basal and stimulated testosterone and dihydrotestosterone were found along with normal baseline levels of gonadotropins. These endocrinologic studies were suggestive for an androgen insensitivity. Mental and motor development of the infant were normal at 3 and 6 months of age. Because of the high level of consanguineous marriages in Turkey, we may expect a higher incidence of the autosomal recessive form of the syndrome. This gives a high recurrence risk and makes prenatal diagnosis an important option for future pregnancies in the families.
authors.affiliation: Department of Pediatrics, Baskent University Faculty of Medicine, Adana, Turkey. handeglcn@yahoo.com
authors.forename: H
authors.initials: H
authors.lastname: Gulcan
authors.forename: A
authors.initials: A
authors.lastname: Akinci
authors.forename: A
authors.initials: A
authors.lastname: Aktar
mesh_terms: D000015:Abnormalities, Multiple; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D004700:Endocrine System Diseases / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D013577:Syndrome