Two patients with Apert syndrome with different mutations: the importance of early diagnosis

Abstract

Apert syndrome is an autosomal dominant craniosynostosis syndrome accompanied by limb anomalies. The fibroblast growth factor receptor 2 (FGFR2) gene is responsible for the disease and two different heterozygous mutations, p.Pro253Arg and p.Ser252Trp, have been defined as responsible in the majority of cases of Apert syndrome. In this case report, two patients with Apert syndrome with two different FGFR2 gene mutations are presented. Case-1, a 4-month-old boy with craniosynostosis and syndactyly was referred to pediatric genetic clinic. The molecular analysis revealed p.Pro253Arg mutation in the FGFR2 gene, which confirmed the diagnosis of Apert syndrome. Case-2, a 16-year-old girl with developmental delay, cleft palate, syndactyly, and craniosynostosis, was also diagnosed as having Apert syndrome. A molecular diagnosis identified a p.Ser252Trp heterozygous mutation in the FGFR2 gene. Case-1 underwent surgery for craniosynostosis at age 10 months and he was developmentally normal during the 2 year follow-up period. As a conclusion, early surgical intervention should be considered in cases of Apert syndrome to prevent intellectual disability.

Keywords: Apert syndrome; FGFR2; craniosynostosis.

Picture 1 a, b

Image of case 1 showing dysmorphic facial signs (a), syndactyly in the hands and feet (b)

Picture 2 a, b

Images of direct X-ray showing syndactyly in the hands and feet in case 1 (a), three-dimensional computerized tomography images showing coronal suture synocytosis (b)

Picture 3 a, b

Image of case 2 showing dysmorphic facial signs (a), syndactyly involving the second and fifth digits in the hands and feet (b)

Picture 4 a, b

Images of X-ray showing syndactyly in the hands and feet in case 2 (a), three- dimensional computerized tomography images showing synocytosis in the coronal and sagittal sutures and maxillary and mandibular hypoplasia (b)