BBBG syndrome or Opitz syndrome: new family

We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of th...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 34; no. 3; p. 313
Main Authors Verloes, A, Le Merrer, M, Briard, M L
Format Journal Article
LanguageEnglish
Published United States 01.11.1989
Subjects
Abnormalities, Multiple - classification
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adult
Diagnosis, Differential
Face - abnormalities
Female
Genes, Dominant
Humans
Hypertelorism - genetics
Hypospadias - genetics
Infant, Newborn
Intellectual Disability - genetics
Larynx - abnormalities
Male
Nose - abnormalities
Pedigree
Syndrome
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Summary:We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.
ISSN:0148-7299
DOI:10.1002/ajmg.1320340303