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Opitz BBBG syndrome: new family with late‐onset, serious complication
Author(s) -
Schrander Jaap,
SchranderStumpel Connie,
Berg Jelle,
Frias Jaime L.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04059.x
Subject(s) - imperforate anus , hypertelorism , proband , medicine , hypospadias , abnormality , pediatrics , stridor , anatomy , surgery , genetics , biology , mutation , airway , psychiatry , gene
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.