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Opitz BBBG syndrome: new family with late-onset, serious complication
J Schrander1, C Schrander-Stumpel, J Berg
1Department of Pediatrics, University of Limburg, Maastricht, The Netherlands.
Insights
Opitz BBBG syndrome, a midline defect disorder, can present with late-onset laryngeal abnormalities. This case highlights the importance of recognizing varied presentations of this autosomal dominant condition.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Opitz BBBG syndrome is an autosomal dominant disorder characterized by midline developmental defects.
- Key features include hypertelorism, hypospadias in males, and various midline abnormalities affecting the larynx, heart, and urogenital systems.
- The syndrome exhibits partial male sex limitation, influencing its inheritance pattern.
Observation:
- A Dutch family with Opitz BBBG syndrome was studied.
- The proband presented with late-onset symptoms indicative of a structural laryngeal abnormality.
- This observation expands the known clinical spectrum of the syndrome.
Findings:
- The case demonstrates that Opitz BBBG syndrome can manifest with delayed onset of laryngeal structural issues.
- This finding is significant given the typical presentation of midline defects in early development.
- Genetic analysis confirmed the autosomal dominant inheritance pattern within the family.
Implications:
- Recognizing late-onset laryngeal symptoms is crucial for accurate diagnosis and management of Opitz BBBG syndrome.
- This case underscores the phenotypic variability and potential for delayed manifestation of the syndrome.
- Further research into the genetic and molecular mechanisms underlying late-onset features is warranted.
Abstract:
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.