Results 91 to 100 of about 1,628 (156)

Diastrophic dysplasia: prenatal diagnosis and review of the literature

São Paulo Medical Journal
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza   +6 more
doaj   +1 more source

Hereditary osteochondrodysplasia in scottish fold cats [PDF]

Kafkas Universitesi Veteriner Fakültesi Dergisi, 2015
AYDIN D, ALTUNATMAZ K, OLĞUN ERDİKMEN D, ÖZER K, DURMUŞ D, AVANUS K   +5 more
doaj   +1 more source

The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type [El síndrome de la "Isla de la Fantasía". Individualización de una nueva osteocondrodisplasia probablemente autosómica dominante.]

, 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.
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Schimke immuno-osseous dysplasia: case report and review of 25 patients [PDF]

, 1999
Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease.
Correia, AJ, Resende, C, Saraiva, JM, Dinis, A, Gomes, C, Faria, E, Gil, J, Fonseca, N   +7 more
core   +1 more source

Dysplasie thoracique asphyxiante ou syndrome de Jeune: À propos de deux cas

, 2010
Asphyxiating thoracic dysplasia (Jeune syndrome) is an osteochondrodysplasia with autosomal recessive inheritance, characterised by a nanism with rhizomelic predominance, associated with a narrow thorax.
Harou, KARAM, L'Hermite, Marc, K. Harou, M. L’Hermite   +3 more
core   +1 more source

Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea

Revista Chilena de Obstetricia y Ginecología, 2012
El síndrome otopalatodigital tipo 2 (OPD2), es una rara entidad con herencia recesiva ligada al cromosoma X, letal, caracterizada por facies anormales con hipoplasia centrofacial, hipertelorismo ocular, paladar hendido, talla baja, huesos largos curvos ...
Wilmar Saldarriaga, Albaro José Nieto Calvache, Juan Carlos Quintero, Harry Pachajoa, Carolina Isaza   +4 more
doaj  

Mandibular bone formation and repair and therapeutic approaches in FGFRs osteochondrodysplasia

, 2023
Les patients atteints d'ostéochondrodysplasies, liées à des mutations activatrices dans les gènes FGFR2 et FGFR3, présentent des malformations craniofaciales et mandibulaires.
Morice, Anne
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Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia - Case report and review

, 1999
We report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. the main findings in this lethal osteochondrodysplasia are osteosclerosis and advanced skeletal maturation.
Patricio, FRD, Galera, M. F., Monlleo, I. L., Brunoni, D., Lederman, H. M., Porciuncula, CGG   +5 more
core   +1 more source

X chromosome transmitted leukoencephalopathy and osteochondrodysplasia - four cases, one family [PDF]

, 2011
Das Ziel dieser Arbeit war es die genetische Grundlage einer bisher unbekannten Erkrankung zu identifizieren. Diese ist gekennzeichnet durch die Symptome einer Leukoenzephalopathie und Osteochondrodysplasie.
Banneck, Gabriela
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[Dysplasia epiphysealis hemimelica].

, 1994
The Authors present 9 patients affected by Dysplasia Epiphysealis Hemimelica with a mean follow-up of 11 years (range 5 years-21 years). The Authors confirm the benignity of the disease and report the variability of the clinical evolution of this rare ...
ORSI, Errico, S. Mastragostino, G. Stella   +2 more
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