EP16.10: Prenatal diagnosis of Crouzon syndrome by 2D‐ultrasonography

Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.

Crouzon Syndrome is an autosomal dominant syndromic craniosynostosis characterized by premature closure of cranial sutures, exophthalmos, and midface hypoplasia. It is caused by multiple mutations in the fibroblast growth factor receptor 2 (FGFR2). We describe prenatal genetic testing of FGFR2 in a fetus of a mother whose previous child had Crouzon Syndrome due to an apparently de novo mutation...

Diagnosis and evaluation of Crouzon syndrome.

Crouzon syndrome is an autosomal dominant condition characterized by craniosynostosis with associated dentofacial anomalies. This report describes the different clinical features in two affected individuals of different families with particular reference to characteristic findings of this syndrome.

Prenatal diagnosis of Joubert syndrome

Introduction: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and r...

Prenatal diagnosis of Down's syndrome.

Prenatal diagnosis of Sanfilippo syndrome.

The focus of this communication is to comment on the relative importance of enzymatic and molecular genetics, potential false results and future options for prenatal diagnosis of Sanfilippo syndrome (mucopolysaccharidosis (MPS) types IIIA, IIIB, IIIC and IIID). During the provision of an international service over the past 25 years, our department has identified 7 affected out of 49 MPS III pre...