Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190]

Hall, Judith G.

doi:10.1002/ajmg.a.30633

American J of Med Genetics Pt A

2005

DOI: 10.1002/ajmg.a.30633

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Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190]

Judith G. Hall

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Cited by 3 publications

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Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Bober

Jackson

2017

Curr Osteoporos Rep

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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.SummaryMOPDII 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.

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Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Bober

Jackson

2017

Curr Osteoporos Rep

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Multiple café au lait spots and hypopigmented lesions : the first sign of microcephalic osteodysplastic primordial dwarfism type 2 (MIM210720)

Webber

O’Toole

Paige

2006

Annales de Dermatologie et de Vénéréologie

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Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II

Karatas¹,

Bober²,

Rogers³

et al. 2014

Journal of Pediatric Orthopaedics

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Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190]

Cited by 3 publications

References 3 publications

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Multiple café au lait spots and hypopigmented lesions : the first sign of microcephalic osteodysplastic primordial dwarfism type 2 (MIM210720)

Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II

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