Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies
- J L Prenner1,
- G Binenbaum1,
- D F Carpentieri1,
- S M Goldstein1,
- R S Douglas1,
- E Ruchelli1,
- J A Katowitz1,
- R W Hertle2
- 1Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania; Departments of Pediatric Ophthalmology and Pathology, Children's Hospital of Philadelphia; Philadelphia, Pennsylvania, USA
- 2The Laboratory of Sensorimotor Research, The National Eye Institute, The National Institutes of Health; Bethesda, Maryland, USA
- Correspondence to: J L Prenner, MD, Department of Ophathalmology, Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19106, USA; jlprenner{at}excite.com
- Accepted 7 September 2001
Treacher Collins syndrome (TCS) (mandibulofacial dysostosis (MFD) or zygoauromandibular dysplasia) is one of a group of congenital malformation syndromes that have in common maldevelopment of the first and second branchial arches.1 Clinical features typically include hypoplasia of the mandible and zygoma; a complex variety of ear abnormalities including malformed pinnae, atresia of the external auditory canals and anomalies of the middle ear ossicles; cleft palate; receding chin; and sinus and choanal atresia.2 We present a pair of twins that possessed not only classic features of TCS but also unusual visceral and previously unreported ophthalmic pathology.
Case reports
A 32 year old, gravida 3 para 2-0-0-2 woman underwent elective abortion after fetal death and major fetal malformations were diagnosed during pregnancy. Ultrasound examination at 20 weeks of gestation displayed monozygotic, diamniotic twins. Fetus A, noted alive at 16 weeks, was dead and surrounded by minimal amniotic fluid. Fetus B was alive with several anomalies including bilateral infraorbital cystic masses, protruding tongue, and …
