RESUMEN
The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.
Asunto(s)
Anomalías Múltiples/genética , Contractura/genética , Craneosinostosis/genética , Humanos , Lactante , Masculino , Síndrome de Marfan/genética , Síndrome , Sinostosis/genéticaRESUMEN
In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 and type 2, it is important to establish a correct diagnosis in these patients. A case of type II oro-facio-digital syndrome is being reported and the distinguishing clinicoradiological features with type I are compared.
Asunto(s)
Niño , Femenino , Humanos , Síndromes Orofaciodigitales/diagnósticoRESUMEN
A common and conspicuous congenital hand anomaly, polydactyly commonly involves only the hand or the foot. Polydactyly involving both hands and feet is rare. We herewith report two cases of Crossed Polydactyly (Type I) and review the literature.