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Aarskog syndrome: New oral‐facial findings
Author(s) -
Melnick Michael,
Shields Edward D.
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb01545.x
Subject(s) - medicine , genetics , biology
The 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.