Literature DB >> 3223498

Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5: a previously apparently undescribed MCA/MR syndrome.

R A Pfeiffer1, L Kapferer.   

Abstract

We report on a young man with a syndrome of mental retardation, abnormalities of the brain, sensorineural deafness, hypospadias, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, and abnormal dermatoglyphics. This appears to be a previously undescribed MCA/MR syndrome.

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Year:  1988        PMID： 3223498     DOI： 10.1002/ajmg.1320310103

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

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Journal:  Int J Surg Case Rep       Date:  2015-02-02

2.  Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male.

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3.  Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Kim L McBride; Susan A Berry; Nancy Braverman
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  3 in total

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