Resumen

MUSTELIER FERNANDEZ, César; CHANG LAGO, Marlenes; ALMUNIA LEYVA, Arturo Luis  y  MOLERO SEGRERA, Mireille. Disostosis cleido-craneal: Estudio clínico, radiográfico y genético de una familia. Rev cubana med [online]. 1999, vol.38, n.2, pp.117-122. ISSN 0034-7523.

A clinical, radiographic and pedigree study of a family with cleiodocranial dysostosis was presented. Such study was carried out in Manzanillo´s "Celia Sánchez Manduley" Clinical Surgical Hospital in 1998. An autosomal dominant inheritance patter was evident with 24 members affected and vertical transfer. The most striking observed clinical features were disproportionality between skull and face sizes and the possibility of joining both shoulders at midline. Dysplasia of both clavicles, brachicephalia and deformed spindle of toe phalanges were the most frequently found alterations in radiographics.

Palabras clave : CLEIDOCRANIAL DYSPLASIA [radiography]; CLEIDOCRANIAL DYSPLASIA [genetics]; PEDIGREE.

        · resumen en Español     · texto en Español     · Español ( pdf )