Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
Author:
Quitter Friederike1ORCID, Flury Monika1, Waldmueller Stephan2, Schubert Tina1, Koehler Katrin1, Huebner Angela1
Affiliation:
1. Children’s Hospital , Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden , Dresden , Germany 2. University Hospital Tübingen, Institut für Medizinische Genetik und Angewandte Genomik Tübingen , Germany
Abstract
Abstract
Objectives
Short stature is one of the most common reasons for consulting a paediatric endocrinologist. Targeted diagnosis of familial short stature can be challenging due to a broad spectrum of differential diagnoses.
Case presentation
Here we report a novel mutation in the fibrillin 1 gene (FBN1) in six family members causing a mild phenotype of acromicric dysplasia. Additionally, we present the effects of growth hormone therapy in one of the affected children.
Conclusions
Acromicric dysplasia is a very rare skeletal dysplasia with a prevalence of <1 of 1.000.000 with only about 60 cases being reported worldwide. It is characterized by short stature, acromelia, mild facial dysmorphy but normal intelligence. This study aims to exemplify the clinical and molecular features of FBN1-related acromicric dysplasia and illustrates its pleiotropy by presenting a new, mild phenotype.
Funder
Else Kröner-Fresenius-Stiftung Eva Luise und Horst Köhler Stiftung
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference10 articles.
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