Results 31 to 40 of about 1,602 (170)

Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets‐Like Rib Fractures: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Samaneh Parviz, Dariush Hooshyar
wiley   +1 more source

Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

, 2003
Define the pattern and birth prevalence of the different types of osteochondrodysplasias in newborn infants in the United Arab Emirates (UAE) population, which is highly inbred and where termination of pregnancy is not accepted. METHODS: All infants with
ABDULRRAZZZAQ, YM, HAAS, D, DAWODU, AK, HAMID, Z, VARGHES, M, PADMANABHAN, R, Bener, Abdulbari, VARADY, E, BAKIR, M, AL-GAZALI, LI   +9 more
core   +1 more source

Abnormal skull findings in neural tube defects [PDF]

, 2009
The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical
Cacciatore , Alessandro, Carrara, Sabina, Rapisarda, Giulia, La Galia, Tindara, Recupero , Stefania, Mammaro, Alessia, Accardi, Manuela Chiara, Pedata, Rosa, Imbruglia, Laura, Pappalardo, Elisa Maria   +9 more
core   +1 more source

Diagnóstico pré-natal de displasia camptomélica: relato de caso Prenatal diagnosis of camptomelic dysplasia: a case report

Revista Brasileira de Ginecologia e Obstetrícia, 2008
A displasia camptomélica pertence a um grupo heterogêneo e raro de displasias esqueléticas letais, que se caracterizam pelo desenvolvimento anormal dos ossos e das cartilagens.
Tadeu Coutinho, Conrado Milani Coutinho, Larissa Milani Coutinho   +2 more
doaj   +1 more source

Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)

International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 318-324, March/April 2026.
ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon, Nancy Tayles, Sarah Agatha Villaluz, Pratiwi Yuwono, Kate Domett, Melandri Vlok   +5 more
wiley   +1 more source

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

, 2021
Bone dysplasias (osteochondrodysplasias) are a large group of conditions associated with short stature, skeletal disproportion, and radiographic abnormalities of skeletal elements. Nearly all are genetic in origin.
Ingrid Kühnle, Mozzato, Chiara, Ann Nordgren, Superti‐Furga, Andrea, Caterina Cancrini, Kramm, Christof Maria, Gen Nishimura, Bonafè, Luisa, Anna Hammarsjö, Zuccarello, Daniela, Putti, Caterina, Daniela Zuccarello, Finocchi, Andrea, Lorenzo D. Botto, Kühnle, Ingrid, Marie Meeths, Andrea Finocchi, Alanay, Yasemin, Chiara Mozzato, Sheila Unger, Unger, Sheila, Birgit Zirn, Giedre Grigelioniene, Superti-Furga, Andrea, Zirn, Birgit, Melita Irving, Christof Maria Kramm, Caterina Putti, Campos‐Xavier, Belinda, Henter, Jan‐Inge, Henter, Jan Inge, Jan‐Inge Henter, Campos-Xavier, Belinda, Grigelioniene, Giedre, Nordgren, Ann, Yasemin Alanay, Irving, Melita, Sabir, Ataf, Jones, Wendy D., Laura Mazzanti, Emanuela Scarano, Nishimura, Gen, Bergamaschi, Rosalba, Wendy D. Jones, Mazzanti, Laura, Rosalba Bergamaschi, Botto, Lorenzo D., Birgit Borgström, Belinda Campos‐Xavier, Cancrini, Caterina, Scarano, Emanuela, Andrea Superti‐Furga, Meeths, Marie, Ataf Sabir, Luisa Bonafè, Borgström, Birgit, Hammarsjö, Anna   +56 more
core   +1 more source

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

Indian Journal of Radiology and Imaging
Skeletal dysplasias or osteochondrodysplasias comprise a large heterogeneous group of genetic disorders and possess significant overlap on imaging, which adds to the dilemma of the reporting radiologist.
Dheeksha D. S., Stuti Chandola, Aayush Jain, Neerja Gupta, Madhulika Kabra, Manisha Jana   +5 more
doaj   +1 more source

First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
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.
Supitcha Thamissarakul, Teeraphorn Boonswang, Sethapong Lertsakulbunlue, Siriluk Khumsui, Boonchai Boonyawat, Richa Sharma   +5 more
wiley   +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  

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

The Anatomical Record, Volume 308, Issue 7, Page 1893-1911, July 2025.
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuzé, Laurence Legeai‐Mallet, Joan T. Richtsmeier   +9 more
wiley   +1 more source