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The Golabi-Rosen syndrome--report of a second family.
Am J Med Genet. 1984 Jan; 17(1):359-66.AJ

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.

Authors

No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6538756

Citation

Opitz, J M.. "The Golabi-Rosen Syndrome--report of a Second Family." American Journal of Medical Genetics, vol. 17, no. 1, 1984, pp. 359-66.
Opitz JM. The Golabi-Rosen syndrome--report of a second family. Am J Med Genet. 1984;17(1):359-66.
Opitz, J. M. (1984). The Golabi-Rosen syndrome--report of a second family. American Journal of Medical Genetics, 17(1), 359-66.
Opitz JM. The Golabi-Rosen Syndrome--report of a Second Family. Am J Med Genet. 1984;17(1):359-66. PubMed PMID: 6538756.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Golabi-Rosen syndrome--report of a second family. A1 - Opitz,J M, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 359 EP - 66 JF - American journal of medical genetics JO - Am J Med Genet VL - 17 IS - 1 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6538756/The_Golabi_Rosen_syndrome__report_of_a_second_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=17&issue=1&spage=359 DB - PRIME DP - Unbound Medicine ER -