Results 81 to 90 of about 1,628 (156)
Campomelic syndrome—laryngotracheomalacia treated with single-stage laryngotracheal reconstruction
, 1996 The campomelic syndrome is a rare osteochondrodysplasia which frequently leads to early death from pulmonary insufficiency. We describe a patient with anatomic compromise of the upper airway due to diffuse laryngotracheomalacia and a moderate subglottic ...
K.D. Pereira +9 more
core +1 more source
Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report
, 1998 Thanatophoric dwarfism is a lethal, rare osteochondrodysplasia and results from mutations on the fibroblast growth factor receptor 3 (FBGFR3) gene, on the short arm of chromosome 4.
Durukan S. +4 more
core +1 more source
A novel osteochondrodysplasia‐like phenotype in mice
, 2017 Skeletal dysplasias (SDs) are a group of disorders that disrupt normal bone formation and development, with high perinatal mortality rates, short life expectancy, and lifelong disability, although long‐term prognosis depends on the type of dysplasia ...
Kucka, M. ; https://orcid.org/ +4 more
core
, 2019 Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and facial ...
Alban Ziegler (7375799) +9 more
core +1 more source
Site-1 protease regulates skeletal stem cell population and osteogenic differentiation in mice
Biology Open, 2018 Site-1 protease (S1P) is a proprotein convertase with essential functions in the conversion of precursor proteins to their active form. In earlier studies, we demonstrated that S1P ablation in the chondrocyte lineage results in a drastic reduction in ...
Debabrata Patra +4 more
doaj +1 more source
, 1995 Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous parents, presented dwarfism, peculiar facies, with blepharophimosis, mongoloid slanted eyes, abundant eyebrows and eyelashes, harsh voice and short hands
Cantu, J.M.
core
Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I
Acta Médica del Centro, 2015 Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It
Ana Esther Algora Hernández +3 more
doaj
G3: Genes, Genomes, Genetics, 2016 Using genomic applications to glean insights into human biology, we systematically searched for nonsense single nucleotide variants (SNVs) that are rare in the general population but enriched in the Old Order Amish (Amish) due to founder effect.
Christina G. Tise +9 more
doaj +1 more source
, 2007 Context: The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases resulting from mutations in the PTHR1 gene. Among these diseases is Blomstrand osteochondrodysplasia (BOCD).
Wynaendts, L.C. +5 more
core +1 more source
Revista de la Facultad de Medicina, 2013 Background. Diastrophic dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter. This sindrome is a micromelic dysplasia with multiple bone deformities of the hands,
Tatiana Pineda +4 more
doaj