Literature DB >> 8357564

Miller postaxial acrofacial dysostosis. The phenotypic changes with age.

K Chrzanowska1, J P Fryns.   

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.

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Year:  1993        PMID: 8357564

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

1.  A.B.R. in Nager type acrofacial dysostosis syndrome.

Authors:  A Mishra; G K Shukla; N Bhatia
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  1999-07

2.  Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

Authors:  Ewelina Bukowska-Olech; Anna Materna-Kiryluk; Joanna Walczak-Sztulpa; Delfina Popiel; Magdalena Badura-Stronka; Grzegorz Koczyk; Adam Dawidziuk; Aleksander Jamsheer
Journal:  Front Genet       Date:  2020-11-11       Impact factor: 4.599

  2 in total

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