Results 91 to 100 of about 15,172 (214)

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination [PDF]

, 2015
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births.
Aakash Pandita, Chetan Kumar, Deepak Sharma, Pradeep Sharma, Sanjay Bhalerao, Sweta Shastri   +5 more
core   +2 more sources

New Classification of Polydactyly of the Foot on the Basis of Syndactylism, Axis Deviation, and Metatarsal Extent of Extra Digit

Archives of Plastic Surgery, 2013
Background Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and less relevant to surgical methods and results.
Hyo Hyun Seok, Ji Ung Park, Sung Tack Kwon   +2 more
doaj   +1 more source

Fraser syndrome: case report [PDF]

, 2008
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities.
Chaves, Alessandra Pinheiro, Lima, Humberto Castro, Lopes, Tâmara, Pinheiro, Regina Helena Rathsam, Saraceno, Janaína   +4 more
core   +2 more sources

Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]

, 2016
First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C., Bruno, D., Chong, C., Feng, J., Hahn, C., Klingler-Hoffmann, M., Lee, Y., Lipsett, J., Mcphee, A., Nataren, N., Schreiber, A., Schwarz, Q., Scott, H.   +12 more
core   +1 more source

SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE

Jurnal Rekonstruksi dan Estetik, 2019
Highlights: • Complex syndactyly in Apert syndrome, particularly when complicated with synonychia and synostosis, poses a significant surgical challenge.
Williams Mesang, Agus Santoso Budi, Magda Rosalina Hutagalung   +2 more
doaj   +1 more source

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation [PDF]

, 2009
On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split ...
Lurie, I W, Niedrist, D, Schinzel, A
core   +1 more source

Síndrome de Apert: características clínicas e radiográficas e relato de caso [PDF]

PURPOSE: Apert syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.
COSTA, Claudio, OLIVEIRA, Jefferson Xavier, SANTOS, Karina Cecília Panelli, VAROLI, Felipe Paes   +3 more
core   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 985-988, April 2026.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

syndactyly

Citation: 'syndactyly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11276 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Maria Laura Tripodi, Santiago Tomas Bosio   +1 more
openaire   +2 more sources