[The aglossia-adactylia syndrome].
We present two own cases of the aglossy-adactyly syndrome and a review of 25 cases of the literature. Our experience concernes two girls. One was followed from birth until 4 1/2 years, the other from 5 to 9 years. This helped us to obtain a good knowledge of the development of these patients. Malformations of the mouth and of the limbs with a normal intelligence characterize the aglossy-adactyly syndrome. The most important features are: shortness of the tongue of variable degree, anomaly of the teeth, hypoplasia of the mandible and ectromelia of different extension with a peripheric predilection and often with an asymmetry. The etiology is unknown. All the known cases are sporadic. The differential diagnosis of the aglossy-adactyly syndrome includes the ankyloglossia superior, the Hanhart syndrome and the oro-farcio-digital syndrome I. Even when the mouth malformations are of a great degree, the functional limitations of the patients with aglossy-adactyly syndrome are very small. This is important in determining the prognosis, in consulting the patients and their parents and for decisions about corrective operations.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D009056:Mouth Abnormalities / Q000175:diagnosis*; D011379:Prognosis; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014059:Tongue / Q000002:abnormalities*
Das Aglossie-Adaktylie-Syndrom