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The FG syndrome: further characterization, report of a third family, and of a sporadic case.
Am J Med Genet. 1977; 1(1):47-58.AJ

Abstract

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

565138

Citation

Riccardi, V M., et al. "The FG Syndrome: Further Characterization, Report of a Third Family, and of a Sporadic Case." American Journal of Medical Genetics, vol. 1, no. 1, 1977, pp. 47-58.
Riccardi VM, Hässler E, Lubinsky MS. The FG syndrome: further characterization, report of a third family, and of a sporadic case. Am J Med Genet. 1977;1(1):47-58.
Riccardi, V. M., Hässler, E., & Lubinsky, M. S. (1977). The FG syndrome: further characterization, report of a third family, and of a sporadic case. American Journal of Medical Genetics, 1(1), 47-58.
Riccardi VM, Hässler E, Lubinsky MS. The FG Syndrome: Further Characterization, Report of a Third Family, and of a Sporadic Case. Am J Med Genet. 1977;1(1):47-58. PubMed PMID: 565138.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The FG syndrome: further characterization, report of a third family, and of a sporadic case. AU - Riccardi,V M, AU - Hässler,E, AU - Lubinsky,M S, PY - 1977/1/1/pubmed PY - 1977/1/1/medline PY - 1977/1/1/entrez SP - 47 EP - 58 JF - American journal of medical genetics JO - Am J Med Genet VL - 1 IS - 1 N2 - We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/565138/The_FG_syndrome:_further_characterization_report_of_a_third_family_and_of_a_sporadic_case_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1977&volume=1&issue=1&spage=47 DB - PRIME DP - Unbound Medicine ER -