Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings.
Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern.
D000015:Abnormalities, Multiple; D001763:Blepharoptosis; D002648:Child; D002680:Chin / Q000002:abnormalities; D003394:Craniofacial Dysostosis / Q000150:complications; D003731:Dental Caries / Q000209:etiology; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital; D005885:Gingival Hyperplasia / Q000209:etiology; D005891:Gingivitis / Q000209:etiology; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000209:etiology; D008865:Microstomia / Q000209:etiology; D010159:Palate / Q000002:abnormalities; D010375:Pedigree; D011862:Radiography, Panoramic; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014070:Tooth / Q000000981:diagnostic imaging