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pubmed-article:1248161pubmed:abstractTextThe Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon finding of ophthalmoplegia and three previously unreported oral-facial findings: enamel dysplasia, a "col" deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve. The implications of genetic heterogeneity in this nosologic classification are discussed.lld:pubmed
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pubmed-article:1248161pubmed:articleTitleAarskog syndrome: new oral-facial findings.lld:pubmed
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pubmed-article:1248161pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
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