Treacher -Collins syndrome

Abstract

Introduction

Treacher Collins syndrome (TCS) is a rare syndrome inherited as autosomal dominant. The affected children may vary in severity ranging from minimal features as slanting of palpebral fissures to major features of craniofacial development such as hypertelorism, micrognathia, maxillary hypoplasia, high arched palate, conductive hearing loss, external ear abnormalities and narrow nostrils. We report a case of Treacher Collins syndrome with term gestation with polyhydramnios and fetus with micrognathia on ultrasound examination with previous two babies and father having the same disorder.

Case Report

A 30 year old ,unbooked G₃ P₂ L₁D_1, postcesaerean pregnancy, term gestation with polyhydramnios with breech presentation with features of TCS admitted for institutional delivery at Government General Hospital, Kakinada, Andhra Pradesh, India. Her scan on admission revealed single fetus in breech presentation with micrognathia and AFI 25cm. she delivered a live male baby weighing 2.2kg with features of TCS through ceserean section and inspite of airway support the baby died on first postnatal day.

Conclusion

This case report confirms the need to identify the antenatal women with physical malformations and early ultrasound scan in women with previous H/O anomalous children, and polyhydramnios so that termination can be planned early.

Key Words

Polyhydramnios , Treacher Collins Syndrome, Micrognathia, Anti mongoloid slant of eyes