Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type

Definition:

Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease.

References:

[1]. André Mégarbané, et al. A second family with autosomal recessive spondylometaphyseal dysplasia and early death. Am J Med Genet A. 2014 Apr;164A(4):1010-4. [Content Brief]

[2]. André Mégarbané, et al. Sib pair with previously unreported skeletal dysplasia. Am J Med Genet A. 2008 Nov 15;146A(22):2916-9. [Content Brief]

[3]. Cybel Mehawej, et al. The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. PLoS Genet. 2014 May 1;10(5):e1004311. [Content Brief]

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