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Phenotypic overlap of the BBB and G syndromes.
Am J Med Genet. 1978; 2(2):145-52.AJ

Abstract

Three males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X-linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder.

Links

Publisher Full Text

Authors

Cordero JF
No affiliation info available
Holmes LB
No affiliation info available

MeSH

Abnormalities, MultipleAdultChildChild, PreschoolCleft LipCleft PalateFemaleGenes, DominantHumansHypertelorismHypospadiasInfantMalePhenotypeSyndromeX Chromosome

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

263434

Citation

Cordero, J F., and L B. Holmes. "Phenotypic Overlap of the BBB and G Syndromes." American Journal of Medical Genetics, vol. 2, no. 2, 1978, pp. 145-52.
Cordero JF, Holmes LB. Phenotypic overlap of the BBB and G syndromes. Am J Med Genet. 1978;2(2):145-52.
Cordero, J. F., & Holmes, L. B. (1978). Phenotypic overlap of the BBB and G syndromes. American Journal of Medical Genetics, 2(2), 145-52.
Cordero JF, Holmes LB. Phenotypic Overlap of the BBB and G Syndromes. Am J Med Genet. 1978;2(2):145-52. PubMed PMID: 263434.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotypic overlap of the BBB and G syndromes. AU - Cordero,J F, AU - Holmes,L B, PY - 1978/1/1/pubmed PY - 1978/1/1/medline PY - 1978/1/1/entrez SP - 145 EP - 52 JF - American journal of medical genetics JO - Am J Med Genet VL - 2 IS - 2 N2 - Three males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X-linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/263434/Phenotypic_overlap_of_the_BBB_and_G_syndromes_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1978&volume=2&issue=2&spage=145 DB - PRIME DP - Unbound Medicine ER -