akrodysplázia typu V akrodysplázia, typ V Giedionov-Langerov syndróm syndróm tricho-rino-falangeálny typu II syndróm tricho-rino-falangeálny, typ II dysplázia tricho-rino-falangeálna II
English X references
Acrodysplasia V Giedion-Langer Syndrome Trichorhinophalangeal Syndrome Type II
Scope note in English
Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
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(4) - ARTICLES
(1) - CiBaMed
subject heading
Number of the records: 1
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