Familial treacher collins syndrome- from an obstetrician’s view

Authors

  • Chesta Saini Department of Obstetrics and Gynaecology, Sanjay Gandhi Memorial Hospital, Delhi, India
  • Kishore Rajurkar Department of Obstetrics and Gynaecology, Sanjay Gandhi Memorial Hospital, Delhi, India
  • Rizul Saini Department of Anaesthesia, Sanjay Gandhi Memorial Hospital, Delhi, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20210757

Keywords:

Treacher collins syndrome, Unicornuate uterus, Craniofacial dysmorphism

Abstract

A number of genetic syndromes have been identified and can be diagnosed antenatally using ultrasonography signifying the importance of antenatal care. We report a rare case of familial treacher collins syndrome diagnosed postnatally that shows difficulties faced by an obstetrician to safely manage such cases.

 

References

Edwards SJ, Fowlie A, Cust MP, Liu DTY, Young ID, Dixon MJ. Prenatal diagnosis in Treacher Collins. Otolaryngol Head Neck Surg. 1995;121:509–14.

Fazen LE, Elmore J, Nadler HL: Mandibulo-facial dysostosis (Treacher-Collins syndrome). Am J Dis Child 1967;113: 405–10.

Rovin S, Dachi SF, Borenstein DB, Cotter WB: Mandibulofacial dysostosis, a familial study of five generations. J Pediatr 1964;65:215–21.

Kasat V, Baldawa R. Treacher Collins syndrome - A case report and review of literature. J Clin Exp Dent 2011;3:e395-9

Dixon MJ, Marres HA, Edwards SJ, Dixon J, Cremers CW: Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol 1994;3:96–103.

Marres HA, Cremers CW, Dixon MJ, Huygen PL, Joosten FB: The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 1995;121: 509–14.

Li C, Mernagh J, Bourgeois J. Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. Clinic Dysmorphol. 2009;18(1):63-6.

Downloads

Published

2021-02-24

Issue

Section

Case Reports