[Type III shortrib-polydactyly syndrome (Verma-Naumoff) in concomitance with ectodermal dysplasia (author's transl)].
Аннотация
Reported in this paper is a case of shortrib-polydactyly syndrome in a stillborn male infant. The case was identified as Type III (Verma-Naumoff) on account of typical skeletal findings, such as very short ribs, micromelia, postaxial hexadactyly of all extremities, and shortened cranial base, with due consideration being also given, in that context, to characteristic radiographic and histological changes, including metaphysial spurs of long cylindrical bones. Malformations were recorded also from kidneys, ureters, small intestine, and pancreas.--Thin downy head-hair, missing eyebrows, precocious dentition, as well as partial hypoplasia and aplasia of nails were interpreted as signs of ectodermal dysplasia.--Shortrib-polydactyly syndrome is based on autosomal recessive inheritance. Early genetic advice should be offered to parents. Systematic prenatal diagnosis is necessary in case of another pregnancy.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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