Results 41 to 50 of about 4,149 (222)

Accelerated versus conventional Ponseti protocol for the treatment of idiopathic talipes equinovarus deformity: A short term follow up in Iraq

Zanco Journal of Medical Sciences, 2021
Background and objective: The accelerated protocol of Ponseti method was suggested to shorten the period of treatment of the conventional one for the cases of talipes equinovarus deformity.
Jagar Omar Doski, Berivan Ibrahim Jamal Aqrawi   +1 more
doaj   +1 more source

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? [PDF]

, 2015
published_or_final_versio
Abe, Y, Adelstein, RS, Chung, BHY, Ganetzky, R, Hong, SK, Kruszka, P, Ma, X, Martinez, AF, Muenke, M, Mullikin, JC, Mutesa, L, Stevenson, RE, Uwineza, A, Zackai, EH   +13 more
core   +1 more source

Screening for musculoskeletal system malformations and birth injuries in newborns: Results of a screening program in two hospitals in Shenzhen, China

Pediatric Investigation, 2022
Importance There are a variety of musculoskeletal malformations and injuries that can occur in newborns. These can be a significant cause of perinatal death or a reason for miscarriage and can lead to long‐term functional issues if not managed ...
Zhu Xiong, Zhenhui Zhao, Hansheng Deng, Xin Qiu, Weiqing Li, Xiaodi Chen, Yu Tang, Shuai Han, Jiaxin Zhao, Ting Cai, Xian Liu, Shuaidan Zeng, Shengping Tang   +12 more
doaj   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Novel Nonsense Mutation in <i>SMARCD2</i> Gene Results in Dysplasia of All Myeloid Cell Lines. [PDF]

EJHaem
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Brouwer MAE, Arensman A, Taal HR, Buddingh EP, Sun SM, Hulsmann A, Waals-Prinzen L.   +6 more
europepmc   +2 more sources

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. [PDF]

, 2009
Clubfoot is a common birth defect that affects 135,000 newborns each year worldwide. It is characterized by equinus deformity of one or both feet and hypoplastic calf muscles.
Blanton, Susan H, Burt, Amber, Dobbs, Matthew B, Ester, Audrey R, Gurnett, Christina A, Hecht, Jacqueline T, Scott, Allison, Weymouth, Katelyn S, Wise, Carol A   +8 more
core   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 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

PENATALAKSANAAN FISIOTERAPI PADA GANGGUAN POLA BERJALAN AKIBAT CONGENITAL TALIPES EQUINOVARUS DI YPAC KOTA MAKASSAR [PDF]

, 2023
Congenital talipes equinovarus merupakan kelainan bawaan pada kaki dan pergelangan kaki yang berupa deformitas inversi, kombinasi equines dan varus dari kaki belakang, serta adduksi dari sendi subtalar dan midtarsal.
Anshar, Anshar, Erawan, Tiar, Lisnawati, Lisnawati, Muthiah, Siti, Thahir, Muh   +4 more
core   +2 more sources