Results 21 to 30 of about 1,628 (156)

Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion

Journal of Biological Research, 2021
The authors report on a patient with Chiari I malformation associated to Waardenburg phenotype, multiple malformations, osteochondrodysplasia and microdeletion of 1q21,1 chromosome, of which they underline the rarity.
Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Enrico Calcagno, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi   +6 more
doaj   +1 more source

First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous <i>CANT1</i> Mutations: Expanding the Molecular Spectrum. [PDF]

Case Rep Genet
Desbuquois dysplasia Type 1 (DBQD1) is an extremely rare autosomal recessive skeletal dysplasia characterized by severe short stature, joint laxity, distinct facial dysmorphism, and advanced carpotarsal ossification. Here, we report the first Thai patient diagnosed with classical lethal DBQD1.
Thamissarakul S, Boonswang T, Lertsakulbunlue S, Khumsui S, Boonyawat B.   +4 more
europepmc   +2 more sources

Clinical and Radiological Aspects of Pycnodysostosis: 1st Series of the Genetics Department of the Mohammed VI University Hospital of Marrakech

Journal of Medical Sciences and Health, 2023
Pycnodysostosis is a rare bone dysplasia with an incidence of 1 in 100,000 cases. It is a genetic disease (from the Greek pycnos = dense, dys = trouble and osteon = bone) also called osteochondrodysplasia, first described in 1962 by Maroteaux ...
Kenza Dafir, Fatima Zahrae Bouzid, Maria Mansouri, Hassan Akallakh, Imane Ait Sab, Mohammed Bouskraoui, Nisrine Aboussair   +6 more
doaj   +1 more source

Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia

Journal of Anaesthesiology Clinical Pharmacology, 2013
Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM), also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till
Rudrashish Haldar, Prakhar Gyanesh, Sukhen Samanta   +2 more
doaj   +1 more source

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Clinical Case Reports, 2023
Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old girl with congenital
Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena   +5 more
doaj   +1 more source

A family of Melnick-Needles syndrome: a case report

BMC Pediatrics, 2020
Background Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. MNS is inherited in an X-linked dominant manner.
Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun, Soonchul Lee   +5 more
doaj   +1 more source

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report. [PDF]

Mol Genet Genomic Med
A novel COL9A3 splice‐site variant was identified in a 14‐year‐old male misdiagnosed with juvenile idiopathic arthritis, confirming multiple epiphyseal dysplasia and emphasizing molecular testing as the key to unlocking accurate diagnosis in genetically heterogeneous skeletal disorders.
Alnuaimi B, Miranda V, Sbrocchi AM, Campeau PM, Campillo S, Lahiry P.   +5 more
europepmc   +2 more sources

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

, 2023
SNARE proteins comprise a conserved protein family responsible for catalyzing membrane fusion during vesicle traffic. Syntaxin18 (STX18) is a poorly characterized endoplasmic reticulum (ER)-resident t-SNARE.
Willaert, Andy, De Rycke, Riet, Malfait, Fransiska, Guillemyn, Brecht, Blaumeiser, Bettina, De Saffel, Hanna, Bek, Jan Willem, Jarayseh, Tamara, Debaenst, Sophie, De Clercq, Adelbert, Rosseel, Toon, Symoens, Sofie, Coucke, Paul, Byers, Peter H., Syx, Delfien, Tapaneeyaphan, Piyanoot   +15 more
core   +2 more sources

Síndrome de Grebe. Reporte de un caso. [Grebe syndrome. Case report.]

Revista de la Asociación Argentina de Ortopedia y Traumatología, 2018
La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y ...
Jessica Andrea Suárez Zarrate, Ricardo Arias Arguello, Sebastián Rodríguez Serna   +2 more
doaj   +1 more source

Traqueobroncopatia osteocondroplástica: relato de 2 casos e revisão bibliográfica Osteochondroplastic tracheobronchopathy: report on 02 cases and bibliographic review

Brazilian Journal of Otorhinolaryngology, 2010
A traqueobroncopatia osteocondroplásica (TO) é uma doença benigna rara, de causa desconhecida, caracterizada por numerosos nódulos submucosos sésseis, cartilaginosos e/ou ósseos, distribuídos pelas paredes ântero-laterais, projetando-se no lúmen ...
José Antonio Pinto, Luiz Carlos da Silva, Delmer J. P Perfeito, Josemar dos Santos Soares   +3 more
doaj   +1 more source