Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)

Definition:

Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis.

References:

[1]. Ghada M H Abdel-Salam, et al. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet A. 2011 Nov;155A(11):2885-96. [Content Brief]

[2]. Patrick Edery, et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011 Apr 8;332(6026):240-3. [Content Brief]

[3]. Piranit N Kantaputra, et al. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A. 2004 Oct 1;130A(2):181-90. [Content Brief]

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