Variable expressivity in acrocephalosyndactyly syndrome type I. A report of two patients

Abstract

Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia and severe bone skin and symmetrical syndactyly of hands and feet. Most cases of Apert syndrome are sporadic, due to new mutations in the receptor gene 2 of fibroblast growth factor, whose locus is located on the long arm of chromosome 10. The estimated frequency of this syndrome is from one in 160 000 births. Two patients with clinical diagnosis of Apert syndrome is presented and a detailed phenotypic delineation is performed to demonstrate the variability in expression of the clinical phenotype: one male of two years old and a female of four years old, both cases were sporadic and they were not associated with advanced paternal age. The clinical manifestations of the two patients confirm the variable expression of the syndrome with phenotypic characteristic manifestations: secondary acrocephaly to craniosynostosis and syndactyly of hands and feet present in both cases together with cleft palate in one case and kyphosis, light reduced visual and auditory acuity, as well as moderate intellectual disabilities, on the other.

Keywords

• acrocefalosindactilia
• factor 2 de crecimiento de fibroblastos
• craneosinostosis