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Miller postaxial acrofacial dysostosis. The phenotypic changes with age.

Abstract
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.
AuthorsK Chrzanowska, J P Fryns
JournalGenetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 4 Issue 2 Pg. 131-3 ( 1993) ISSN: 1015-8146 [Print] Switzerland
PMID8357564 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple
  • Aging
  • Craniofacial Dysostosis (pathology)
  • Follow-Up Studies
  • Hearing Loss, Conductive (rehabilitation)
  • Humans
  • Infant
  • Intellectual Disability (rehabilitation)
  • Limb Deformities, Congenital
  • Male
  • Phenotype

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