Results 11 to 20 of about 9,046 (221)

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability.
Bing Wang, Chunxiao Hua, Qimeng Liu, Dajun Cai   +3 more
doaj   +2 more sources

Spondylocostal dysostosis with split cord malformation in a resource-limited setting: A case report [PDF]

Radiology Case Reports
Spondylocostal dysostosis (SCD) is a rare congenital disorder marked by severe vertebral and rib malformations, often resulting in thoracic insufficiency and respiratory issues.
Kidus Demelash, MD, Suleiman Belay, MD, Haymanot Alebachew, MD, Gebreegziabher Hailay, MD, Fire Yishar, MD, Abate Weldetsadik, MD   +5 more
doaj   +2 more sources

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens [PDF]

Biology
Lateral facial clefts are rare and often part of more complex syndromic neurocristopathies. According to Tessier’s classification, they correspond to facial cleft numbers 6, 7 and 8.
Jana Behunova, Helga Rehder, Anton Dobsak, Susanne G. Kircher, Lucas L. Boer, Andreas A. Mueller, Janina M. Patsch, Eduard Winter, Roelof-Jan Oostra, Eva Piehslinger, Karoline M. Reich   +10 more
doaj   +2 more sources

Spondylocostal dysostosis: A rare and remarkable syndrome [PDF]

Radiology Case Reports
Spondylocostal dysostosis (SCD) is a rare autosomal recessive congenital disorder, characterized by a spectrum of clinical and radiographic abnormalities affecting the spine and chest.
Basma Dghoughi, MD, Basma Beqqali, MD, Hajar Andour, MD, Nazik Allali, PhD, Latifa Chat, PhD, Siham El Haddad, PhD   +5 more
doaj   +2 more sources

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly [PDF]

BMC Medical Genomics
Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP ...
Ekaterina Lyulcheva-Bennett, Christopher Kershaw, Eleanor Baker, Stuart Gillies, Emma McCarthy, Jenny Higgs, Natalie Canham, Dawn Hennigan, Chris Parks, Daimark Bennett   +9 more
doaj   +2 more sources

Craniofacial Dysostosis

Indian Journal of Ophthalmology, 1966
Garg K, Saxena R, Bisaria K
doaj   +2 more sources

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis

Frontiers in Pediatrics, 2023
BackgroundSpondylocostal dysostosis is a rare genetic disorder caused by mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has ...
Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Khouloud Zayoud, Mohamed Zouari, Mohamed Nabil Nessib, Rym Kéfi, Houda Yacoub-Youssef   +7 more
doaj   +1 more source

Zebrafish Models for Human Skeletal Disorders

Frontiers in Genetics, 2021
In 2019, the Nosology Committee of the International Skeletal Dysplasia Society provided an updated version of the Nosology and Classification of Genetic Skeletal Disorders. This is a reference list of recognized diseases in humans and their causal genes
Manuel Marí-Beffa, Manuel Marí-Beffa, Ana B. Mesa-Román, Ivan Duran, Ivan Duran   +4 more
doaj   +1 more source

Cleidocranial dysplasia: A rare case report

Journal of Pharmacy and Bioallied Sciences, 2023
Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group.
Akshay A Dhobley, Aparna V Thombre, Dipak Ghatage, Ranu Ingole Patil   +3 more
doaj   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort. [PDF]

Clin Genet
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Aubert Mucca M, Brunelle P, Doco Fenzy M, Vanlerberghe C, Dieux A, Feyereisen L, Jobic F, Lode L, Le Guyader G, Petit F, Schaefer E, Zaafrane-Khachnaoui K, Ziegler A, Patat O.   +13 more
europepmc   +2 more sources