Results 151 to 160 of about 385,840 (284)

Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia. [PDF]

JCEM Case Rep
Loid P, Kotanidou EP, Tsinopoulou VR, Galli-Tsinopoulou A, Mäkitie O.   +4 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA. [PDF]

HGG Adv
Weaver KN, Broeckel JW, Brown K, Wasserman H, Wu J, Neal A, Prada CE, Kleinschmidt NL, Machal EMF, Bertinetti D, Ruiz-Perez VL, Taylor SS, Brugmann SA, Herberg FW.   +13 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

Dermatomyositis as a Paraneoplastic Syndrome Secondary to Carcinoma of Cervix: A Rare Clinical Association

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Dermatomyositis (DM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and distinctive cutaneous manifestations. It is frequently associated with underlying malignancies, making recognition of paraneoplastic features crucial.
Manisha Chapagain, Paras Adhikari, Niranjan Pudasaini, Sabin Poudel, Bijay Timilsina   +4 more
wiley   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype. [PDF]

Clin Genet
Arduç A, Zuurbier LC, van Maarle MC, Lauffer P, Verbeke JIML, Bax CJ, van Tuyl M, Hochstenbach R, Pajkrt E.   +8 more
europepmc   +1 more source

Craniofacial Morphology and Dental Age Assessment in Pediatric Craniosynostosis: A Comparative Cross‐Sectional Study

Clinical and Experimental Dental Research, Volume 12, Issue 5, October 2026.
ABSTRACT Objectives To delineate the craniofacial morphometric characteristics of Thai children with syndromic (SC) and non‐syndromic craniosynostosis (NSC) and to assess dental maturation relative to Chronological Age (CA). Methods This comparative cross‐sectional study evaluated 19 patients (SC: n = 13; NSC: n = 6; mean age 9.32 ± 2.67 years ...
Nutthakarn Ratanasereeprasert, Yanisa Wongbanthit, Narin Intarak, Preeya Suwanwitid, Chutimont Teekavanich, Anand Marya, Guang Hong, Thantrira Porntaveetus   +7 more
wiley   +1 more source

Delayed diagnosis of mucopolysaccharidosis type I in a patient with spinopelvic instability, short stature, and skeletal dysplasia. [PDF]

JBMR Plus
Windels O, Lindschau M, Boschann F, Oheim R, Muschol N.   +4 more
europepmc   +1 more source

Artificial Intelligence‐Assisted Wireless Handheld Ultrasound for Screening Developmental Dysplasia of the Hip in Infants

Journal of Ultrasound in Medicine, Volume 45, Issue 10, Page 2329-2343, October 2026.
Objectives Ultrasonography is increasingly the preferred method for infant hip screening to enable timely diagnosis and treatment of developmental dysplasia of the hip (DDH). However, its reliance on experienced specialists and bulky equipment limits its application in routine screening, particularly in resource‐limited and remote settings. We aimed to
Dandan Zhang, Simiao Tao, Ping Chen, Jiangtao Wang, Yu Yang, Xiuxiu Zhang, Tieqiang Wang, Hailin Pan, Jiong Chen, Baoying Ye   +9 more
wiley   +1 more source