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The G and BBB syndromes: case presentations, genetics, and nosology.
Am J Med Genet. 1978; 2(2):131-44.AJ

Abstract

Hypertelorism and hypospadias are described in four unrelated boys; bilateral cleft lip and cleft palate were also present in two of the boys and mild mental retardation in another. These features are compatible with both the G and BBB syndromes. When present, laryngotracheoesophageal anomalies or respiratory and swallowing difficulties are characteristic features of the G syndrome; otherwise facial features may be useful in distinguishing the G and BBB syndromes. Cases 1 and 2 had anteverted nares and a broad and flat nasal bridge, and Case 1 had shortened palpebral fissures, all consistent with the G syndrome. In contrast, Cases 3 and 4 had a high and broad nasal bridge as previously described in the BBB syndrome. The father of Case 1 had mild hypertelorism and first-degree hypospadias, demonstrating autosomal dominant inheritance in the G syndrome. The mothers of Cases 2, 3, and 4 all had mild hypertelorism consistent with autosomal dominant inheritance and partial male-sex limitation, as previously proposed for both the G and BBB syndromes.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

263433

Citation

Funderburk, S J., and R Stewart. "The G and BBB Syndromes: Case Presentations, Genetics, and Nosology." American Journal of Medical Genetics, vol. 2, no. 2, 1978, pp. 131-44.
Funderburk SJ, Stewart R. The G and BBB syndromes: case presentations, genetics, and nosology. Am J Med Genet. 1978;2(2):131-44.
Funderburk, S. J., & Stewart, R. (1978). The G and BBB syndromes: case presentations, genetics, and nosology. American Journal of Medical Genetics, 2(2), 131-44.
Funderburk SJ, Stewart R. The G and BBB Syndromes: Case Presentations, Genetics, and Nosology. Am J Med Genet. 1978;2(2):131-44. PubMed PMID: 263433.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The G and BBB syndromes: case presentations, genetics, and nosology. AU - Funderburk,S J, AU - Stewart,R, PY - 1978/1/1/pubmed PY - 1978/1/1/medline PY - 1978/1/1/entrez SP - 131 EP - 44 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 2 IS - 2 N2 - Hypertelorism and hypospadias are described in four unrelated boys; bilateral cleft lip and cleft palate were also present in two of the boys and mild mental retardation in another. These features are compatible with both the G and BBB syndromes. When present, laryngotracheoesophageal anomalies or respiratory and swallowing difficulties are characteristic features of the G syndrome; otherwise facial features may be useful in distinguishing the G and BBB syndromes. Cases 1 and 2 had anteverted nares and a broad and flat nasal bridge, and Case 1 had shortened palpebral fissures, all consistent with the G syndrome. In contrast, Cases 3 and 4 had a high and broad nasal bridge as previously described in the BBB syndrome. The father of Case 1 had mild hypertelorism and first-degree hypospadias, demonstrating autosomal dominant inheritance in the G syndrome. The mothers of Cases 2, 3, and 4 all had mild hypertelorism consistent with autosomal dominant inheritance and partial male-sex limitation, as previously proposed for both the G and BBB syndromes. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/263433/The_G_and_BBB_syndromes:_case_presentations_genetics_and_nosology_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1978&volume=2&issue=2&spage=131 DB - PRIME DP - Unbound Medicine ER -