Document Detail


Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
MedLine Citation:
PMID:  15368497     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family.
Authors:
Judith G Hall; Christina Flora; Charles I Scott; Richard M Pauli; Kimi I Tanaka
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  130A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-09-15     Completed Date:  2004-11-19     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  55-72     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Affiliation:
Department of Medical Genetics, UBC and Children's and Women's Health Centre of British Columbia Vancouver, British Columbia, Canada. jhall@cw.bc.ca
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Adolescent
Bone Diseases, Developmental / complications,  etiology*,  pathology
Cerebral Arterial Diseases / complications,  etiology*
Child
Child Development
Child, Preschool
Craniofacial Abnormalities / etiology*,  pathology
Dwarfism / etiology*,  pathology
Female
Fetal Growth Retardation*
Head / abnormalities
Humans
Infant
Infant, Newborn
Male
Personality
Puberty
Short Rib-Polydactyly Syndrome / pathology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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