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Robinow Syndrome: a case report.
Genet Couns. 2005; 16(3):297-300.GC

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+Show Affiliations

Department of Pediatrics, Baskent University Faculty of Medicine, Adana, Turkey. handeglcn@yahoo.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16259327

Citation

Gulcan, H, et al. "Robinow Syndrome: a Case Report." Genetic Counseling (Geneva, Switzerland), vol. 16, no. 3, 2005, pp. 297-300.
Gulcan H, Akinci A, Aktar A. Robinow Syndrome: a case report. Genet Couns. 2005;16(3):297-300.
Gulcan, H., Akinci, A., & Aktar, A. (2005). Robinow Syndrome: a case report. Genetic Counseling (Geneva, Switzerland), 16(3), 297-300.
Gulcan H, Akinci A, Aktar A. Robinow Syndrome: a Case Report. Genet Couns. 2005;16(3):297-300. PubMed PMID: 16259327.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Robinow Syndrome: a case report. AU - Gulcan,H, AU - Akinci,A, AU - Aktar,A, PY - 2005/11/2/pubmed PY - 2006/2/16/medline PY - 2005/11/2/entrez SP - 297 EP - 300 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 16 IS - 3 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16259327/Robinow_Syndrome:_a_case_report_ L2 - http://www.diseaseinfosearch.org/result/9258 DB - PRIME DP - Unbound Medicine ER -