Genital anomalies in a patient with Treacher Collins syndrome
β Scribed by Dr. Karin Writzl; Jera Jeruc; Michael Oldridge; Borut Peterlin; Raoul C.M. Hennekam
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 225 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising __de novo__. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been
## We report extreme expression of Treacher Collins syndrome in an infant with arhinia, anotia, absent zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma of iris, choroid plexus, and optic nerves. The Treacher Collins phenotype was mildly expressed in the mother and moderately in
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