Metaphyseal dysplasias

Definition:

Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in these diseases.

References:

[1]. E Schipani, et al. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. 1995 Apr 7;268(5207):98-100. [Content Brief]

[2]. Ekkehart Lausch, et al. Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet. 2009 Aug;85(2):168-78. [Content Brief]

[3]. K Kozlowski, et al. Metaphyseal chondrodysplasia, type Jansen. Australas Radiol. 1999 Nov;43(4):544-7. [Content Brief]

[4]. M L Warman, et al. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet. 1993 Sep;5(1):79-82. [Content Brief]

[5]. M Michael Cohen Jr, et al. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct 15;112(3):304-13. [Content Brief]

[6]. P Maroteaux, et al. Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. Am J Med Genet. 1991 Apr 1;39(1):4-10. [Content Brief]

[7]. Pelin O Simsek Kiper, et al. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med. 2016 Jun 30;374(26):2553-2562. [Content Brief]

[8]. Yuichiro Hirose, et al. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. J Hum Genet. 2006;51(8):706-710. [Content Brief]

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