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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Autor: Fernando Santos-Simarro, Aude Annick Suter, Uwe Kornak, Wiebke Hülsemann, Rosario Ramos-Mejia, Victoria Huckstadt, Angela Abad Perez, Stefan Mundlos, Pernille Mathiesen Toerring, Manuel Parrón-Pajares, Manuel Holtgrewe, Oliver Bartsch, Karen E. Heath, Nadja Ehmke, Martin A. Mensah

Publikováno v: American Journal of Medical Genetics Part A
Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735

Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20109ad4f9ebdba4773c8c0b0a24f93
https://doi.org/10.1002/ajmg.a.61735

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Peromelia and other associated congenital deficiencies in a kid goat

Autor: Alberto Arencibia, Juan Alberto Corbera, I. Morales, Carlos Gutierrez

Publikováno v: Small Ruminant Research. 73:252-255

This communication presents a case of peromelia associated with brachydactyly and hyperphalangism in a newborn female goat. Absence and rudimentary distal phalanx were observed in hands and feet at X-ray examination. According to the Bell's classific

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d512f1820d09384e46304b5655df74fa
https://doi.org/10.1016/j.smallrumres.2007.06.001

AN UNUSUAL CASE OF HYPERPHALANGISM ASSOCIATED WITH FOREARM AND ELBOW ANOMALIES

Autor: H. Seradge, V. E. Wood

Publikováno v: Hand Surgery. :303-306

Hyperphalangism is characterized by an extra phalanx between the phalanges of a finger, usually excluding the thumb. This abnormality is distinguished from polydactyly and polyphalangism in that the hand has more phalanges in the fingers and no extra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a1592db2872fd0610da7e63a285a380
https://doi.org/10.1142/s021881049800043x