Search results for "Dysostoses"
showing 2 items of 2 documents
Congenital malformations.
2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%. Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce congenital defects. Congenital malformations may be classi- fied on the basis of clinical, etiologic as well as pathogenetic criteria. Relevant diagnostic and therapeutic tools have been progressively improving in the last decades, contributing to a better identification and a reduction of long-term morbidity and mortality of these patients. A correct identification of a congen- ita…
Weyers acrodental dysostosis in a family.
1984
A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.