[Acrocephalosyndactyly (ACS) (author's transl)].
13 cases of ACS are presented: seven of them were identified as Apert's syndrome; two as Chotzen's syndrome; three as Carpenter's syndrome, and one as Pfeiffer's syndrome. These disorders have no known ethiology. However, it is necessary to look for diabetic antecedents and dermatogliphus alterations, both in the patient and the parents. An attempt to give an explanation of their hereditary penetrance is made. Frequency of associated abnormalities, mental retardation, therapeutics, prognosis, and recent encouraging results of plastic surgery of the face are reviewed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000168:Acrocephalosyndactylia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics; D003878:Dermatoglyphics; D003920:Diabetes Mellitus / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome
Acrocefalosindactilias. Presentación de 13 casos