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Published on: January 29, 2020
Etiological study on isolated proximal intercalary type of congenital limb deficiency in Hungary, 1975-1984
A E Czeizel1, M Vitéz, I Kodaj
1Department of Human Genetics and Teratology, National Institute of Hygiene, WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary.
Abstract:
A population-based and validated data set of 14 cases with isolated proximal intercalary type of congenital limb deficiency born in Hungary between 1975-84 was evaluated. Two cases had phocomelia of upper limbs, while 12 cases were affected with classical intercalary defects mainly in femurs. Of 14 cases, 13 had unimelic manifestation and both sexes were equally affected. The intrauterine growth retardation, the excess of second birth order, a higher rate of acute maternal disorder of the respiratory system and the lack of familial cluster are noteworthy. The vascular disruption hypothesis seems to be the most plausible explanation for the origin of isolated proximal intercalary defects.
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