A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.

AUTOR(ES)

Stevenson, R E

RESUMO

A syndrome of multiple anomalies associated with growth failure and delayed development is described. The facies appear distinctive with globular head, prominence of the eyes, hypertelorism, cleft palate, micrognathia, and abnormal pinnae. Other features include vertebral and costal anomalies, cardiac defects, and a peculiar malformation of the hands. At least five other cases of this condition, all occurring in males, may be found in medical reports. The finding of incomplete expression in three maternal relatives of our patient provides evidence for a genetic cause.

Documentos Relacionados

• Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.
• Congenital Anomalies of the Face and Associated Structures
• The Genesis of the Rat Skeleton. A Laboratory Atlas
• Traumatic disruption of the fibrous skeleton of the heart, with injury of the tricuspid and mitral valves, aortic annulus, and ventricular septum
• Non-metric variation of the infracranial skeleton.