Results 61 to 70 of about 4,878 (219)

Soft-tissue abnormalities associated with treatment-resistant and treatment-responsive clubfoot: Findings of MRI analysis [PDF]

, 2014
BACKGROUND: Clubfoot treatment commonly fails and often results in impaired quality of life. An understanding of the soft-tissue abnormalities associated with both treatment-responsive and treatment-resistant clubfoot is important to improving the ...
Aferol, Hyuliya, Commean, Paul K., Dobbs, Matthew B., Gurnett, Christina A., Moon, Daniel K., Siegel, Marilyn J.   +5 more
core   +2 more sources

Human‐Centered Design of a Contextualized Service Delivery Model for Families of Infants With Major Congenital Anomalies in Kenya

Birth Defects Research, Volume 118, Issue 2, February 2026.
ABSTRACT Background Congenital anomalies (CAs) are a major cause of childhood mortality and disability in low‐ and middle‐income countries. Our study explored caregiver experiences of infants with major CAs in Kenya and co‐developed interventions using human‐centered design (HCD).
Audrey Chepkemoi, Molly McPheron, Violet Naanyu, James G. Carlucci, Caroline Kerich, Winnie Matelong, Harold Kooreman, Megan S. McHenry, Caitlin Bernard, Marylydia Kiano, Roselyn Midiwo, Beverly Musick, Constantin T. Yiannoutsos, Kara Wools‐Kaloustian, Rena C. Patel, Edwin Were, John M. Humphrey, on behalf of EA‐IeDEA consortium   +17 more
wiley   +1 more source

Establishment of a control induced pluripotent stem cell line SMBCi018-A from a patient with congenital talipes equinovarus

Stem Cell Research, 2022
Congenital talipes equinovarus (CTEV) is a congenital malformation affecting approximately 1/700-1/1000 of live borns. To date extensive epidemiological and biological studies have been operated to solve this issue, the most meaningful findings in ...
Zhenzhong Han, Jing Wang, Jing Luan, Yazhou Cui, Jinxiang Han   +4 more
doaj   +1 more source

Comorbidities at MS Diagnosis and Their Association With Treatment Persistence: Real‐World Clinical Data

Brain and Behavior, Volume 16, Issue 2, February 2026.
Comorbidity was present in approximately half of the patients with relapsing‐remitting multiple sclerosis in this Finnish cross‐sectional cohort. Comorbidities, especially psychiatric diseases, were associated with lower persistence on injectable disease‐modifying treatments.
Henrik Ahvenjärvi, Ida Lund, Anne M. Portaankorva, Johanna Krüger, Mervi Ryytty   +4 more
wiley   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report [PDF]

, 2012
Introduction A case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the ...
Aruyaru Stanley Mwenda
core   +2 more sources

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, Volume 46, Issue 2, Page 219-228, February 2026.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2015
We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing.
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2017
We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted ...
Rabah M. Shawky, Radwa Gamal
doaj   +1 more source