CROUZON’S SYNDROME: PRESENTATION IN A MOTHER AND HERTWO OFFSPRINGS

Crouzon’s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity and it can appear as a sporadic mutation. It is caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene with chromosomal locus 10q 25.3-q26. It is characterized by premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complex (craniosynostosis). It is very rare with the incidence reported to be approxi-mately 1 in 25,000 births worldwide. We present here a very rare case of a pregnant patient with Crouzon’s syndrome with the foetus diagnosed to a have the genetic mutation for Crouzon’s syndrome and the importance of pre-implantation genetic diagnosis in helping such patients beget normal offspring. Keywords: Craniosynostosis; Crouzon’s syndrome; Prenatal counselling; Pre-implantation genetic diagnosis