Skip to search formSkip to main contentSkip to account menu

Opsismodysplasia

Known as: OPSMD 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal recessive inheritanceFrontal bossingINPPL1, 28-BP DEL, NT94Macrocephaly

Broader (1)

Osteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
[Opsismodysplasia].
2013
2013
Opsismodysplasia: implications of mutations in the developmental gene INPPL1
Whole‐genome analysis reveals that mutations in inositol polyphosphate phosphatase‐like 1 cause opsismodysplasia 
Review
2012
Review
2012
Opsismodysplasia: clinical, radiographic, and histologic findings of a rare chondrodysplasia
O psismodysplasia is a rare chondrodysplasia initially described in the medical genetics literature in 1977 by Zonana. Maroteaux… 
2009
2009
Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia
We report two siblings aged 11 and 7 years, respectively, who presented with the clinical and radiographic features of… 
2007
2007
Hypophosphatemic Rickets in Opsismodysplasia
BACKGROUND Opsismodysplasia is a rare spondylo(epi)chondrodysplasia characteristized by delayed skeletal maturation and a… 
Review
2006
Review
2006
A further case of opsismodysplasia with hydrocephalus.
1997
1997
Opsismodysplasia: a case report.
A 6-month-old boy with opsismodysplasia is reported. The purpose of this paper is to draw attention to severe ureteric reflux and… 
Review
1995
Review
1995
Opsismodysplasia: another case and literature review.
Review
1995
Review
1995
Opsismodysplasia: another case and literature review
Review
1994
Review
1994
Additional case of opsismodysplasia supporting autosomal recessive inheritance.
The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)