Results 31 to 40 of about 2,513 (173)

Congenital diastasis of distal tibiofibular joint. A case report and treatment presentation

Foot & Ankle Surgery: Techniques, Reports & Cases, 2022
Congenital distal tibiofibular diastasis is a rare disorder of unknown etiology, first described in 1972. Purpose of our study is to present a rare case and the treatment plan.
Georgios Paraskevas Chalatsis, MD, MSc, Vasileios Mitrousias, MD, PhD, Athanasios Siouras, MSc, Christos Baltas, MD, Christina Arnaoutoglou, MD, PhD, Nikolaos Rigopoulos, MD, PhD, Konstantinos N. Malizos, MD, PhD   +6 more
doaj   +1 more source

Amniotic band syndrome

Archives of Medicine and Health Sciences, 2018
Amniotic band syndrome is a rare and complex congenital disorder characterized by constricting rings, acrosyndactyly, or often amputations of extremities of neonates.
Umma Abdullahi Idris
doaj   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +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

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

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +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

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source