Opitz BBBG syndrome: new family with late-onset, serious complication.
The Opitz BBBG syndrome is characterized by hypertelorism and (in male patients) hypospadias, in addition to a number of midline abnormalities: posterior laryngeal cleft, stridor, swallowing dysfunction, cardiac defects, imperforate anus, and urinary tract and CNS anomalies. Inheritance is autosomal dominant (McKusick number *145410) with partial male sex limitation in most pedigrees. We report a Dutch family with Opitz BBBG syndrome in which the proband developed late-onset symptoms of a structural laryngeal abnormality.
Schrander
J
J
Department of Pediatrics, University of Limburg, Maastricht, The Netherlands.
Schrander-Stumpel
C
C
Berg
J
J
Frias
J L
JL
D000015:Abnormalities, Multiple / Q000235:genetics*; D017668:Age of Onset; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D006801:Humans; D007223:Infant; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014132:Trachea / Q000002:abnormalities*