Results 41 to 50 of about 17,999 (210)

Wassel VII triphalangeal polydactyly with metacarpal duplication: A report of 2 cases and reconstructive approach

Journal of Orthopaedic Reports
Introduction: Polydactyly has the highest incidence of any upper extremity congenital anomaly. Preaxial polydactyly, while less common than postaxial polydactyly, presents many challenges in its treatment.
Todd H. Alter, Karen J. Noh, Deidre L. Bielicka   +2 more
doaj   +1 more source

Polydactyly 24 in a Female Neonate

Case Reports in Obstetrics and Gynecology, 2013
Polydactyly is perhaps one of the most common congenital hand and foot anomalies. Tetrapolydactyly (polydactyly 24) is a very rare form of hand and foot anomalies.
Oluseyi O. A. Atanda, Kola M. Owonikoko, Adewale S. Adeyemi, Olanrewaju Bajowa   +3 more
doaj   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Case series: Joubert syndrome and eosinophilic esophagitis

JPGN Reports, EarlyView.
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening, Stephanie Leon‐Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari   +5 more
wiley   +1 more source

Genetic pattern and gene localization of polydactyly in Beijing fatty chicken. [PDF]

PLoS ONE, 2017
Polydactyly, a common heritable limb malformation in vertebrates, is characterized by supernumerary digits. In chickens, basic characteristics and rough dominant genes have been explored in past decades; however, the elaborate pattern of inheritance and ...
Chuan He, Yongcan Chen, Kaixuan Yang, Zhengxiao Zhai, Wenjing Zhao, Shuyun Liu, Jinmei Ding, Ronghua Dai, Lingyu Yang, Ke Xu, Zhenxiang Zhou, Caiju Gu, Qizhong Huang, He Meng   +13 more
doaj   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +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

Treatment for central polydactyly of the foot with nine toes: a rare case report

BMC Musculoskeletal Disorders
Background Pediatric polydactyly is a common congenital disorder of the hand and foot that affects the development and psychology of children. It can be classified into postaxial polydactyly, preaxial polydactyly and central polydactyly.
Yu Chen, Chunhua Yin, Xiaofang Shen
doaj   +1 more source

A Rare Footprint: A Case Report of Isolated Pre-Axial Fully Developed Supernumerary Toe

Journal of Orthopaedic Case Reports
Introduction: Polydactyly of the foot, particularly pre-axial polydactyly, is a rare congenital malformation that can occur alongside various congenital anomalies and syndromes.
Varun Kumar, Mohan Choudhary, Srinivasan Rajappa, Kevin Lourdes, Arjun Ganesh, P Velmurugan   +5 more
doaj   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source