Acromesomelic dysplasia, Maroteaux type

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.

Total: 2

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PMID (PMCID)
30622824	OTHER
	Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia.
	Jacob M, Menon S, Botti C, Marshall I. Case Rep Endocrinol. 2018;2018:7658496.
	Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the NPR2 gene, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs.
16384845	MIXED_SAMPLE	Child
	Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.
	Olney RC, Bukulmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML. J Clin Endocrinol Metab. 2006;91(4):1229-32.
	Loss-of-function mutations affecting the CNP receptor natriuretic peptide receptor-B (gene NPR2) cause the autosomal recessive skeletal dysplasia, acromesomelic dysplasia, Maroteaux type (AMDM).