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[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].
J Genet Hum. 1988 Jun; 36(3):257-64.JG

Abstract

We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.

Authors+Show Affiliations

Clinique de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

3411306

Citation

Le Merrer, M, et al. "[Variable Expression of an Autosomal Dominant Syndrome: (BBB Syndrome or G Syndrome)]." Journal De Genetique Humaine, vol. 36, no. 3, 1988, pp. 257-64.
Le Merrer M, Verloes A, Narcy P, et al. [Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. J Genet Hum. 1988;36(3):257-64.
Le Merrer, M., Verloes, A., Narcy, P., & Briard, M. L. (1988). [Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. Journal De Genetique Humaine, 36(3), 257-64.
Le Merrer M, et al. [Variable Expression of an Autosomal Dominant Syndrome: (BBB Syndrome or G Syndrome)]. J Genet Hum. 1988;36(3):257-64. PubMed PMID: 3411306.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. AU - Le Merrer,M, AU - Verloes,A, AU - Narcy,P, AU - Briard,M L, PY - 1988/6/1/pubmed PY - 1988/6/1/medline PY - 1988/6/1/entrez SP - 257 EP - 64 JF - Journal de genetique humaine JO - J Genet Hum VL - 36 IS - 3 N2 - We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/3411306/[Variable_expression_of_an_autosomal_dominant_syndrome:__BBB_syndrome_or_G_syndrome_]_ DB - PRIME DP - Unbound Medicine ER -