Langer mesomelic dysplasia

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Langer mesomelic dysplasia2016-11-26T15:00:04+00:00

Langer mesomelic dysplasia

EMBRYOLOGY

Definition An über rare autosomal recessive skeletal dysplasia (OMIM:249700) characterised by severe short stature due to shortened and maldeveloped mesomelic and rhizomelic segments of limbs. Extraskeletal malformations are rare; IQ is normal in all subjects reported to date. 

Molecular pathology Defects of SHOX–which controls fundamental aspects of growth and development, cause Langer mesomelic dysplasia 

Synonyms Dyschondrosteosis—homozygous, mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHOX

http://omim.org/entry/249700

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