Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
PURPOSE OF THE REVIEWThis review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII).
RECENT FINDINGSOver the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.
Stanley Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Michael.Bober@nemours.org. A. I. DuPont Hospital for Children, 1600 Rockland-Road, Wilmington, DE, 19803, USA. Michael.Bober@nemours.org.
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Fetal Growth Retardation
Pub Type(s)Journal Article
Research Support, Non-U.S. Gov't