Results 101 to 110 of about 9,046 (221)

Clinical Spectrum of Cleidocranial Dysplasia: A Case Report

National Journal of Community Medicine, 2010
Background: The developmental anomaly involving skeleton and teeth is Cleidocranial dysplasia. It is an autosomal disorder with equal sex distribution.
P Sakhi, P Yadav, R Susmitha, A Chawla, CJ Yadav, J Gupta   +5 more
doaj  

A rare case of fronto-nasal dystosis with multiple dysmorphic features: comprehensive genetic analysis using whole genome sequencing

Journal of Rare Diseases
Frontonasal dysostosis (FND) is a rare congenital disorder characterized by craniofacial abnormalities with diverse clinical characteristics. We report a four-year-old male with clinical characteristics related to frontonasal dysostosis, including ...
Sanjukta Sahoo, Deepak Jena, Mamuni Swain, Bhawna Gupta, Ravi Kant Narayan, Prabhas Ranjan Tripathy, Arun Kumar S, Manisha Rajanand Gaikwad, Sunil Kumar Raghav   +8 more
doaj   +1 more source

Polyostotic Dysostosis [PDF]

Proceedings of the Royal Society of Medicine, 1951
openaire   +2 more sources

Pyknodysostosis - Two Case Reports

Journal of Indian Academy of Oral Medicine and Radiology, 2004
Two cases with the typical features of Pyknodystosis have been described with characteristic clinical and radiographic features. The patients with this syndrome should be differentiated from other closely related syndromes as cleidocranial dysostosis and
Jigna S Shah, Sonal Thakkar, Shweta GoeI
doaj  

Cleidocranial dysostosis [PDF]

BMJ Case Reports, 2015
Riddhi, DasGupta, Felix K, Jebasingh, Hesarghatta Shyamasunder, Asha, Nihal, Thomas   +3 more
openaire   +2 more sources

Cephalic Dysostosis [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1934
openaire   +2 more sources

dysostosis

Citation: 'dysostosis' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10627 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells

JCI Insight
Dysostosis multiplex is a major cause of morbidity in Hurler syndrome (mucopolysaccharidosis type IH [MPS IH], OMIM #607014) because currently available therapies have limited success in its prevention and reversion.
Samantha Donsante, Alice Pievani, Biagio Palmisano, Melissa Finamore, Grazia Fazio, Alessandro Corsi, Andrea Biondi, Shunji Tomatsu, Rocco Piazza, Marta Serafini, Mara Riminucci   +10 more
doaj   +1 more source

Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis. [PDF]

Mol Syndromol
Gürbüz BB, Özalp Ö.
europepmc   +1 more source