Apert Syndrome: Case Series and Review of The Literature

Abstract

Summary: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristic from the phenotypic manifestations only. We present cases of 6-years-old male, 2-years-old female, and 3-years-old female, respectively, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnostic of Apert Syndrome.

Pasien Sindroma Apert Yang Dilakukan Operasi Fronto Orbital Advancement Setelah Occipital Expansion

“…Sindroma Apert merupakan salah satu sindroma yang jarang terjadi yang disebabkan oleh mutasi dari gen fibroblast growth factor receptor, dan 2 tambahan gen S252W danP235R, sindroma ini terjadi 1:65.000 -100.000 kelahiran hidup secara global, dan merupakan tipe kraniosinostosis sindromik kedua terbanyak yang terjadi. 2,3 Sindroma Apert merupakan tipe 1 dari acrocephalosyndactily yang merupakan 1 dari 5 tipe acrocephalosyndactily yang memiliki mutasi genetik pada FGFR-2, namun pada Sindroma Apert memiliki tambahan yaitu adanya mutasi genetik lain yang menyebabkan tingginya angka kejadian terhadap sumbing palatum (S252W) dan sindaktili yang lebih parah dibandingkan lainnya (P253R). 2,4 Gejala klinis pada sindroma Apert tidak hanya berupa kraniosinostosis , dan sindaktili, namun dapat melibatkan gangguan dari wajah seperti midface hypoplasia, hypertelorism, exorbitism, tampakan wajah yang sedih (down slanting eyes).…”