Miller postaxial acrofacial dysostosis. The phenotypic changes with age.
We report data on the clinical and psychological follow-up of a boy with Miller postaxial acrofacial dysostosis syndrome between the ages of 1 and 7 years. After an initial psychomotor retardation intellectual and social function improved significantly after the use of hearing aids (50-70 db bilateral hearing loss). The facial appearance changed with age: the face became asymmetric and triangular with more pronounced ectropion and fine, thin lips.
Chrzanowska
K
K
Department of Human Genetics, Memorial Hospital Child Health Centre, Warsaw, Poland.
Fryns
J P
JP
D000015:Abnormalities, Multiple; D000375:Aging; D003394:Craniofacial Dysostosis / Q000473:pathology*; D005500:Follow-Up Studies; D006314:Hearing Loss, Conductive / Q000534:rehabilitation; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000534:rehabilitation; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype