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Live birth prevalence of major congenital anomalies in the United Arab Emirates. [PDF]

Sci Rep
Adam H, Ghenimi N, Narchi H, Ahmad A, Al Hajeri OM, Elbarazi I, Al-Rifai RH, Ahmed LA.   +7 more
europepmc   +1 more source

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The Genetic Basis of the Osteochondrodysplasias

Journal of Pediatric Orthopaedics, 2000
The osteochondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth and remodeling of cartilage and bone, affecting from 2 to 4.7 per 10,000 individuals. Most osteochondrodysplasias are heritable and many have elaborate patterns of genetic transmission.
A C, Baitner, S G, Maurer, M B, Gruen, P E, Di Cesare   +3 more
exaly   +3 more sources

Prevalence of Lethal Osteochondrodysplasias in Denmark

American Journal of Medical Genetics, Part A, 1989
AbstractThe point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of ...
Poul Erik Andersen
exaly   +3 more sources

Evaluation of Prenatal-Onset Osteochondrodysplasias by Ultrasonography: A Retrospective and Prospective Analysis

American Journal of Medical Genetics, Part A, 2008
The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis.
Deborah Krakow, William Wilcox, Yasemin Alanay   +2 more
exaly   +3 more sources

Ultrastructural aspects of osteochondrodysplasias

, 1990
The literature on osteochondrodysplasias is voluminous and a multitude of conflicting classifications has developed over the years. Eponyms proliferated and identical syndromes were described under multiple headings, whereas dissimilar disorders were treated as one. Even the newest methods of investigation frequently fail to reveal clear-cut boundaries
Ernesto Ippolito, Jerry A. Maynard, Angiola Pedrini-Mille, Vittorio Pedrini   +3 more
openaire   +2 more sources

Osteochondrodysplasias

, 2006
core   +4 more sources

Autosomal Dominant and Recessive Osteochondrodysplasias Associated With the COL11A2 Locus.

Cell, 1995
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis.
Mary B Goldring, Bjorn R. Olsen, Han G. Brunner   +2 more
exaly   +1 more source

Osteochondrodysplasias

, 2011
core   +4 more sources

Birth Prevalence and Pattern of Osteochondrodysplasias in an Inbred High Risk Population

Birth Defects Research Part A: Clinical and Molecular Teratology, 2003
Define the pattern and birth prevalence of the different types of osteochondrodysplasias in newborn infants in the United Arab Emirates (UAE) population, which is highly inbred and where termination of pregnancy is not accepted. METHODS: All infants with
Abdülbari Bener, Rengasamy Padmanabhan
exaly   +2 more sources

International Classification of Osteochondrodysplasias

European Journal of Pediatrics, 1992
R Lachman, P Maroteaux, D L Rimoin
exaly   +4 more sources