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Clin Genet 1994 Mar;45(3):154-61 Related Articles, Links


Oto-palato-digital syndrome type II in two unrelated
boys.

Preis S, Kemperdick H, Majewski F.

Department of Pediatrics, Heinrich Heine Universitat, Dusseldorf, Germany.

We report on two boys with oto-palato-digital syndrome type II, characterized by growth
retardation, bowed long bones, missing or hypoplastic fibulae, sclerosis of the skull base
and wavy, irregular clavicles and ribs. The facial appearance is distinctive due to prominent
forehead, widely spaced eyes, antimongologid slant of palpebral fissures, flattened nasal
bridge and retrogenia. The mother of one patient showed a mild manifestation of have been
reported so far. The similarities and dissimilarities to oto-palato-digital have been reported
so far. The similarities and dissimilarities to oto-palato-digital syndrome type I are
discussed.

Publication Types:
Review
Review of Reported Cases

PMID: 8026107 [PubMed - indexed for MEDLINE]