A study of six cases of de Lange Amsterdam dwarf syndrome, with special attention to voice, speech and language characteristics.
From a survey of southern Scotland, six severly handicapped subjects (age-range 8 to 22 years) were established by firm criteria as suffering from the de Lange Amsterdam Dwarf syndrome. They showed a high incidence of behaviour disturbance. Language development was retarded and all but one of the subjects were dysphonic. A connection may exist between the glottal "fry" (an unperiodical phonation of the vocal folds in a frequency below the normal pitch register) observed in the cries of the younger non-speaking cases and the hoarseness in the speech of the older subjects.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000503:physiopathology* / Q000523:psychology; D005260:Female; D006801:Humans; D007223:Infant; D007804:Language Development; D008297:Male; D013060:Speech; D014831:Voice