Oto-palato-digital syndrome type II
- 1 August 1992
- journal article
- case report
- Published by Springer Nature in Pediatric Radiology
- Vol. 22 (4) , 267-269
- https://doi.org/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.Keywords
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