The Golabi‐Rosen syndrome ‐ report of a second family
- 1 January 1984
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 17 (1), 359-366
- https://doi.org/10.1002/ajmg.1320170129
Abstract
Golabi and Rosen (1984) have reported on a new X‐linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre‐ and postnatal overgrowth, characteristic “coarse” facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. This was an incompletely recessive trait with some manifestations evident in an obligatory carrier. Here we report on a second family (studied at the University of Wisconsin for over 9 years) in which 3 males born to half‐sisters and their mother were affected with the Golabi‐Rosen syndrome (GRS) Overgrowth was not a prominent manifestation in these affected males. Presence of cystic kidneys, peculiar skin changes and hepatomegaly make it likely that the Golabi‐Rosen syndrome is an X‐linked MCA/dysplasia/MR syndrome. Its metabolic basis remains unknown. It seems to be an incompletely recessive trait.Keywords
This publication has 2 references indexed in Scilit:
- A new X‐linked mental retardation‐overgrowth syndromeAmerican Journal of Medical Genetics, 1984
- The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspectsAmerican Journal of Medical Genetics, 1983