1 results match your criteria: "National Reference Center for congenital and hereditary deafness Oto-rhino-laryngology[Affiliation]"
Clin Dysmorphol
April 2009
Department of Medical genetics, National Reference Center for Congenital Anomalies of Development, Université Victor Segalen Bordeaux Departments of Pediatrics Pediatric Cardiology, CHU de Bordeaux Departments of Pneumology Medical genetics, National Reference Center for congenital and hereditary deafness Oto-rhino-laryngology, CHU Armand Trousseau, Paris, France.
We report two patients considered to have an atypical presentation of Hallerman-Streiff syndrome (HSS) associated with laterality and cardiac defects. Clinical features include typical facial gestalt, atrophy of the skin, and hypotrichosis. Ophthalmologic abnormalities, normally present in HSS, are only found in one of the two patients.
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