Results 31 to 40 of about 17,999 (210)

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

BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]

Romanian Journal of Pediatrics, 2015
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fintina   +3 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

A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway

Frontiers in Genetics, 2020
Polydactyly and syndactyly are congenital limb malformations that may occur either as non-syndromic or syndromic forms. In the present study, massively parallel sequencing was performed on a proband in a four-generation family with polydactyly and ...
Ying Xiang, Xiaoliang Li, Zhiyan Zhan, Jue Feng, Hai-qing Cai, Yanxin Li, Q. Fu, Yunlan Xu, Hong Jiang, Xiaoqing Zhang   +9 more
semanticscholar   +1 more source

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

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes. [PDF]

Clin Genet
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Mokhtari A, Charbonneau J, Miranda V, Jizi K, Delrue MA, Egerszegi P, Thiffault I, Campeau PM.   +7 more
europepmc   +2 more sources

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

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +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

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source