Number of the records: 1

achondroplázia

Subject h.	achondroplázia
Subject h.	Achondroplasia
Entry terms	achondroplázia ťažká, s oneskorením vývinu a s acanthosis nigricans SADDAN dysplázia
English X references	Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
Scope note in English	An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
See also reference (FX) in Slovak	receptor fibroblastového rastového faktora, typ 3
See also reference (FX) in English	Receptor, Fibroblast Growth Factor, Type 3
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subject heading

Number of the records: 1