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Primary bone dysplasia with micromelia

MedGen UID:: 1842810
•Concept ID:: C5679917
•: Disease or Syndrome

Synonyms:	Primary osteodysplasia with micromelia; Primary skeletal dysplasia with micromelia

Orphanet:	ORPHA364536

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPrimary bone dysplasia with micromelia

Primary bone dysplasia with micromelia

Recent clinical studies

Etiology

Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.

Fukuzawa R, Sato S, Sullivan MJ, Nishimura G, Hasegawa T, Matsuo N
Am J Med Genet 2002 Nov 15;113(1):93-6. doi: 10.1002/ajmg.10716. PMID: 12400072

Diagnosis

Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose.

Freisinger P, Stanescu V, Jacob B, Cohen-Solal L, Maroteaux P, Bonaventure J
Am J Med Genet 1994 Feb 15;49(4):439-46. doi: 10.1002/ajmg.1320490418. PMID: 8160740

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Primary bone dysplasia with micromelia
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