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

Gendall PW, Kozlowski K.

Middlemore Hospital, Auckland, New Zealand.

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.

PMID: 1523048 [PubMed - indexed for MEDLINE]