RESUMEN
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al. (); American Journal of Medical Genetics Part A 173A: 1358-1363]. This case supports the unpredictability of Wieacker-Wolff syndrome severity and prompts future questions regarding female mutations and phenotypic expression.
Asunto(s)
Apraxias/diagnóstico , Apraxias/genética , Fisura del Paladar/diagnóstico , Fisura del Paladar/genética , Contractura/diagnóstico , Contractura/genética , Estudios de Asociación Genética , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Oftalmoplejía/diagnóstico , Oftalmoplejía/genética , Proteínas Portadoras/genética , Preescolar , Cromosomas Humanos X , Facies , Femenino , Pruebas Genéticas , Humanos , Péptidos y Proteínas de Señalización Intracelular , Mutación , Proteínas Nucleares , Linaje , FenotipoRESUMEN
Oculo-ectodermal syndrome is a rare condition characterized by aplasia cutis and epibulbar dermoids. We present the case of a 6-year-old girl with oculo-ectodermal syndrome, who was found to have an arachnoid cyst by head computed tomography. This is the third case of oculo-ectodermal syndrome with arachnoid cyst reported in the literature, and suggests that arachnoid cyst may be a phenotypic feature of oculo-ectodermal syndrome.
