Results 51 to 60 of about 20,549 (261)

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

Idiopathic talipes equinovarus with preaxial polydactyly of the foot: a case report

Medicine Science, 2017
The aim of this study is to report an unusual combination of congenital idiopathic talipes equinovarus with preaxial polydactyly of the foot. A newborn infant was brought to the polyclinic at the age of 1 week. In the right foot, preaxial polydactyly was
Ali Tufan Pehlivan, Suleyman Semih Dedeoglu, Yunus Imren   +2 more
doaj   +1 more source

Table_4_Clinical Genetics of Polydactyly: An Updated Review.DOCX

, 2018
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Bilal (737265), Wasim Ahmad (36431), Muhammad Umair (4062583), Majid Alfadhel (5531333), Farooq Ahmad (526845)   +4 more
core   +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

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

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

Human Genetics, 2019
Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of polydactyly can serve as a tool to elucidate genetic and signaling pathways that regulate limb development ...
Irfan Ullah, Naseebullah Kakar, I. Schrauwen, S. Hussain, Imen Chakchouk, Khurram Liaqat, Anushree Acharya, N. Wasif, R. Santos-Cortez, Saadullah Khan, A. Aziz, Kwanghyuk Lee, Julien Couthouis, D. Horn, Bjørt K. Kragesteen, M. Spielmann, H. Thiele, D. Nickerson, M. Bamshad, A. Gitler, J. Ahmad, M. Ansar, G. Borck, W. Ahmad, S. Leal   +24 more
semanticscholar   +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

Table_3_Clinical Genetics of Polydactyly: An Updated Review.DOCX

, 2018
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Bilal (737265), Wasim Ahmad (36431), Muhammad Umair (4062583), Majid Alfadhel (5531333), Farooq Ahmad (526845)   +4 more
core   +1 more source

Familial Post-Axial Polydactyly of all Limbs in a Neonate

, 2023
Background: Polydactyly is a common congenital abnormality of the hands and feet characterized by more than five fingers and toes. Polydactyly is amongst the commonest inherited skeletal conditions. Polydactyly can be familial or sporadic.
Enebeli Victor, Abhulimen Victor
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source