Results 21 to 26 of about 41 (26)

Talla baja asociada a dientes supernumerarios y anomalías esqueléticas como clave diagnóstica de displasia cleidocraneal en pediatría. Caso clínico. Short stature associated with supernumerary teeth and skeletal abnormalities as diagnostic key of cleidocranial dysplasia in pediatrics. Clinical case. [PDF]

Cleidocranial dysplasia (OMIM #119600) is an autosomal dominant osteochondrodysplasia due to a heterozygous mutation in the RUNX2 gene. Its prevalence is 1 in 1,000,000 individuals. It can be detected in patients with short stature associated with dental
Silva de Arenas, Gloria Fátima, Cammarata-Scalisi, Francisco, Lobo-Vielma, Carmine, Camacho-Camargo, Nolis, Martorelli-Suarez, Yoselyn   +4 more
core   +1 more source

Diastrophic Dysplasia : Clinical, Radiological, Cytogenetic and Molecular Characterization of a Patient

, 2005
RESUMEN: La Displasia Diastrófica (DTD) es un tipo de osteocondrodisplasia congénita con un patrón de herencia autosómico recesivo, descrita inicialmente por Lamy y Maroteaux en 1960.
Cock Rada, Alicia María, Mora Henao, Beatriz Eugenia, Vásquez Palacio, Gonzálo de Jesús, Prada Quiroz, Ana Elvira, Ramírez Gaviria, Gloria Cecilia, Ramírez Castro, José Luis   +5 more
core  

The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type [El s�ndrome de la "Isla de la Fantas�a". Individualizaci�n de una nueva osteocondrodisplasia probablemente autos�mica 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.
core  

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.
core  

XI SOLANEP International Congress / XV Cystic Fibrosis Latinamerican Congress / XV Brazilian Congress of Pediatric Pulmonology. [PDF]

Pediatr Pulmonol, 2016
europepmc   +1 more source

Osteocondrodisplasia em um felino jovem da raça Scottish Fold: relato de caso

, 2017
Ricardo Siqueira da Silva, Gabriela de Carvalho Cid, Luiza Freire de Farias, Katia Barão Corgozinho, Heloisa Justen Moreira de Souza, Mariana Palha de Brito Jardim   +5 more
core   +1 more source