[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]

M Le Merrer; A Verloes; P Narcy; M L Briard

[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]

J Genet Hum. 1988 Jun;36(3):257-64.

[Article in French]

Authors

M Le Merrer¹, A Verloes, P Narcy, M L Briard

Affiliation

¹ Clinique de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris.

PMID: 3411306

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.

Publication types

Case Reports
English Abstract

MeSH terms

Abnormalities, Multiple / genetics*
Adolescent
Adult
Bone Diseases, Developmental / genetics*
Child, Preschool
Female
Humans
Hypertelorism / genetics*
Hypospadias / genetics*
Male
Pedigree
Syndrome