Phenotypical characterization of the Aarskog’s Syndrome

Abstract

Introduction: Aarskog's syndrome is a genetic disease with variable manifestation, characterized by growth retardation, typical facial features, short hand and feet, intellectual disability and genital anomalies. It was described a pattern of recessive inheritance linked to X chromosome, with partial expression in women. Cases with dominanta autosomal transmission have been reported.
Objective: describing the phenotypical characteristics of ten patients with Aarskog's syndrome diagnosis, found as much in female as in male patients.
Materials and methods: we carried out a descriptive, retrospective study, from January to December 2015, with a sample formed by ten patients from Urbano Noris Municipality, province of Holguin.
Results: the most frequent facial characteristics were wide nasal bridge (90 %), anteverted nares (40 %), long philtrum (90 %), with thick lips (60 %) and palpebral fissures down (90 %), followed by hypertelorism and thick eyebrows in a 70 %; brachydactyly was the most common alteration of the limbs (70 %) and membranous syndactyly (80 %), accompanied by mild intellectual disability in 80 %.
Conclusions: the patients showed variability of the clinical expression, found as much in female as in male ones; the phenotypical differences may be explained by the syndrome´s genetic heterogeneity. There are not still in the country molecular researches allowing the genotypic characterization of these patients.