[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].
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.
Le Merrer
M
M
Clinique de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris.
Verloes
A
A
Narcy
P
P
Briard
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome
Expression variable d'un syndrome dominant autosomique: (syndrome BBB ou syndrome G).