Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)

Definition:

Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen.

References:

[1]. Judith G Hall, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A. 2004 Sep 15;130A(1):55-72. [Content Brief]

[2]. M Willems, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010 Dec;47(12):797-802. [Content Brief]

[3]. Maria Piane, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A. 2009 Nov;149A(11):2452-6. [Content Brief]

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