Results 21 to 30 of about 11,948 (181)

Wassel type III polydactyly

Radiology Case Reports, 2019
Preaxial polydactyly, which refers to the duplication of the first digital ray, sporadically occurs in 8 per 100,000 births among African and Caucasian populations.
Meltem Özdemir, MD
doaj   +1 more source

Preaxial polydactyly of the foot in an adult patient diagnosed by X-ray after a trauma

Radiology Case Reports, 2023
Polydactyly, or hyperdactyly, is a frequent malformation, with a reported incidence between 0.37 and 1.2 per 1000 live births. Most cases encountered in medical practice are sporadic cases, usually presenting one-sided manifestations.
Anna Russo, MD, Vittorio Patanè, MD, Vittorio Viglione, MD, Alessandro Pinto, MD, Mariarita Cristiano, MD, Rosita Comune, MD, Luigi Gallo, MD, Alfonso Reginelli, Prof.   +7 more
doaj   +1 more source

Urinary Type Hydrometrocolpos and Polydactyly in Two Newborns: Case Report [PDF]

Iranian Journal of Neonatology, 2021
Background: Abdominal masses secondary to urinary retention are rare among female neonates and approaching this pathologic condition, inevitably, poses a diagnostic challenge.
Ziba Mosayebi, Tahereh Esmaeilnia Shirvani, Vafa Ghorban Sabagh, Maryam Ghavami-Adel, Bahareh Fasihpour, Hosein Dalili, Ali Fathi   +6 more
doaj   +1 more source

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)

Frontiers in Genetics, 2022
Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs.
Lihong Fan, Pengzhen Jin, Yeqing Qian, Guosong Shen, Xueping Shen, Minyue Dong, Minyue Dong   +6 more
doaj   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Identification of novel mutations in preaxial polydactyly patients through whole‐exome sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Polydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could be very problematic, polydactyly patients are usually treated in early childhood ...
Tao Wang, Zhaopeng Xuan, Yichen Dou, Yang Liu, Yanyan Fu, Jingyan Ren, Laijin Lu   +6 more
doaj   +1 more source

Genetic Overview of Syndactyly and Polydactyly

Plastic and Reconstructive Surgery, Global Open, 2017
Summary:. Syndactyly and polydactyly—respectively characterized by fused and supernumerary digits—are among the most common congenital limb malformations, with syndactyly presenting at an estimated incidence of 1 in 2,000–3,000 live births and ...
Humayun Ahmed, BA, Hossein Akbari, MD, Abdolhasan Emami, MD, Mohammad R. Akbari, MD, PhD   +3 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

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

Postaxial Polydactyly

Journal of Nepal Medical Association, 2009
We present a case of postaxial polydactyly with well formed six digits on left hand and seven digits on right hand. Both conditions are rare and combination of these two conditions even rarer.
A N Aggrawal, Manoj Kumar Goyal, Rishi N Gupta   +2 more
doaj   +1 more source