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Oto-palato-digital syndrome type II. Report of two related cases.

作者信息

Gendall P W, Kozlowski K

机构信息

Middlemore Hospital, Auckland, New Zealand.

出版信息

Pediatr Radiol. 1992;22(4):267-9. doi: 10.1007/BF02019855.

Abstract

Two cases with major features of bowed long bones, hypertelorism, mandibular hypoplasia and hand and foot abnormalities with early neonatal death due to respiratory failure are presented. The radiologic and clinical findings are in keeping with oto-palato-digital syndrome type II and differ significantly from other causes of bowed long bones such as campomelic and kyphomelic dysplasias.

摘要

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