نتایج جستجو برای: symmetric syndactyly

تعداد نتایج: 81613  

2012
Saba Khan Laxmikanth Chatra Prashanth Shenai KM Veena

Apert syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. We present a 10-month-old infant having all the features of classical Apert syndrome. How to cite this article: Khan S, Chatra L, Shenai P, Veena KM. Apert Syndrome: A Case Report. Int J Clin Pediatr Dent 2012; 5(3):203-206.

Journal: :Journal of medical genetics 1988
G Oğur M Yüksel

Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.

Journal: :American journal of medical genetics 1997
H P Freihofer S Walji H G Brunner

A 13-year-old mentally retarded girl with severe cutaneous and osseous syndactyly of the hands and feet, cleft lip/palate, and ectodermal dysplasia is presented. We conclude that the pattern of malformations described represents a new multiple malformation syndrome. A comparison with Zlotogora-Ogür syndrome is presented.

Journal: :Gene 2021

We report a detailed case of type 2 TS due to p.(Gly402Ser) mutation in exon 8 the CACNA1C gene. The patient shows marked prolongation repolarization with mean QTc 540 ms. He no structural heart disease, syndactyly, or cranio-facial abnormalities. However, he developmental delays, without autism, and dental cardiac phenotype is very severe, resuscitated arrest at 2.5 years age, followed by 26 a...

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