Phenotype features of patients with Apert syndrome in own study

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Phenotype features of patients with Apert syndrome in own study

Journal Title: Przegląd Pediatryczny - Year 2006, Vol 36, Issue 3

Abstract

Introduction: Apert syndrome consists of multiple bony malformations located in the cranium, hands and feet. Premature closure of cranial sutures, especially coronal and sagittal suture, results in developmental anomalies of the skull. Due to this process there is a characteristic tower head and dysmorphy of the facial cranium. Hands and feet defects may take various forms. Apert syndrome occurs due to mutation of the fibroblast growth factor receptor type 2 (FGFR2) with autosomal dominant inheritance. Differential diagnosis involves other syndromes with acrocephalosyndactyly. Materiał and methods: The goal of this study (basing on clinical history and photographic documentation) was to characterize the most freąuent features associated with Apert syndrome. The study group comprised of 12 patients hospitalised in the Plastic Surgery Clinic Medical University of Lodź. Results: The most freąuent pathologies connected with this syndrome are: acrocephalic cranium, broad forehead, hypertelorism, exophthalmos, downslanting palpebral fissures, depressed nasal bridge and multiple hands and feet malformations. In five cases cleft upper lip with (or) cleft palate co-existed. Discussion: Our study results confirm those from many case reports. So far a few authors have reported presence of the cleft and lip palate in the Apert syndrome. There are also a few data on the developmental anomalies in the lower part of the face. In the prenatal period differential diagnosis may be necessary. Conclusions: The analysis of clinical history and photographic documentation showed phenotype variability of Apert syndrome.

Authors and Affiliations

Bogusław Antoszewski, Justyna Marciszewska, Bartosz Świech

Keywords

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EP ID EP82570
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