Craniofacial and extracranial malformations in the Klippel-Feil syndrome.
The Klippel-Feil syndrome is of special interest to those concerned with cleft palate for the following reasons: (1) Cleft palate is a commonly associated finding: (2) malformations of the cervical vertebrae, in the absence of other stigmata of the syndrome, are a common finding in cleft palate; (3) anomalies of the upper cervical column and cranial base can impede velopharyngeal valving; (4) hearing loss is a common finding in the syndrome irrespective of the presence or absence of cleft palate; (5) cervical anomalies may complicate endotracheal intubation or head extension during pharyngeal surgery, and (5) the short neck may be the primary defect that impedes palatal fusion. This report reviews the literature on 339 patients and seven new cases in an effort to catalog the cranial and extracranial malformations associated with the syndrome and to consider the mode of genetic transmission.
D000015:Abnormalities, Multiple / Q000473:pathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000209:etiology; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007714:Klippel-Feil Syndrome / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013064:Speech Disorders / Q000209:etiology