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 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.
Verloes
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A
Clinique et Unité de Recherches de Génétique Médicale-INSERM U.12, Hôpital des Enfants Malades, Paris, France.
Le Merrer
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M
Briard
M L
ML
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007021:Hypospadias / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D013577:Syndrome