Chien Chung Lee

Prenatal diagnosis of Apert syndrome

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptor 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosis of AS was based on associated abnormal physical features and on molecular genetic analysis. A C‐to‐G transversion at position 937 of the cDNA resulting in a proline‐to‐arginine substitution at codon 253 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.

Hydrops foetalis caused by anti-Mur in first pregnancy – a case report

Summary Anti‐‘Mia’ is the most common alloantibody of potential clinical significance in the Taiwanese population. The Mi.III phenotype is rare among Caucasians but has a high incidence in various Oriental populations. We describe a nulliparous woman with no history of transfusions, who had hydrops foetalis at 28 weeks gestation. Foetal haemoglobin was 4·4 g dL−1, and a positive direct antiglobulin test was positive in the foetal blood. Intrauterine intravascular transfusion was given, and the baby was discharged healthy.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis

A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non‐syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation.