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The spectrum of clinical features in CHARGE syndrome
Author(s) -
Davenport Sandra L. H.,
Hefner Margaret A.,
Mitchell Joyce A.
Publication year - 1986
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.1399-0004.1986.tb01258.x
Subject(s) - charge syndrome , choanal atresia , short stature , atresia , coloboma , columella , hypoplasia , medicine , anatomy , aplasia , dermatology , pediatrics , nose , psychiatry
Fifteen patients with CHARGE syndrome are described, nine sporadic and six familial. A recognizable pattern of malformations is present which appears to constitute a syndrome rather than a non‐random association. In addition to acronymic features of Coloboma, ifeart disease, Atresia of the choanae,.Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency. A square facial appearance with asymmetry and malar flattening is characteristic, and long philtrum or prominent nasal columella may be present. Characteristic external ear anomalies and a ‘wedge’‐shaped audiogram may be unique to this syndrome. Short stature and hypogonadism with genital hypoplasia is pituitary or possibly hypothalamic in origin. Each feature varies from normal to severe involvement including mental function, and no single feature appears to be necessary for diagnosis.