نتایج جستجو برای: syndactyly

تعداد نتایج: 738  

Journal: :American journal of human genetics 2011
Ippei Okada Haruka Hamanoue Koji Terada Takaya Tohma Andre Megarbane Eliane Chouery Joelle Abou-Ghoch Nadine Jalkh Ozgur Cogulu Ferda Ozkinay Kyoji Horie Junji Takeda Tatsuya Furuichi Shiro Ikegawa Kiyomi Nishiyama Satoko Miyatake Akira Nishimura Takeshi Mizuguchi Norio Niikawa Fumiki Hirahara Tadashi Kaname Koh-Ichiro Yoshiura Yoshinori Tsurusaki Hiroshi Doi Noriko Miyake Takahisa Furukawa Naomichi Matsumoto Hirotomo Saitsu

Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three ...

2014
Silvia Helena Tavares Lorena Eliana Domingues Gonçalves Marco Antônio Campos Machado César Augusto Briceño João Amaro Ferrari Silva

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. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). Child,...

2014
Satoko Yamawaki Motoko Naitoh Toshihiro Ishiko Rino Aya Yasuhiro Katayama Shigehiko Suzuki

SUMMARY A keloid is a benign fibroproliferative disease of unknown etiology. Although it is common among Asians, the development of keloid on the foot is rare. We experienced a case of a keloid which arose on the foot of a 4-year-old boy after the surgical release of syndactyly. He had congenital cutaneous syndactyly of the third and fourth toes. After the reconstructive operation was performed...

2017
Alexandra Bucknor Winona Wu Anne Huang Anmol S. Chattha Austin D. Chen Salim Afshar Samuel J. Lin

Syndactyly: National Analysis of Trends in Epidemiology and Surgical Management from 1997–2012 (Article begins on next page) The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters. Citation Bucknor, Alexandra, Winona Wu, Anne Huang, Anmol S. Chattha, Austin D. Chen, Salim Afshar, and Samuel J. Lin. 2017. “Abstract: Syndactyly:...

Journal: :World Journal of Orthopedics 2019

2014
Mauri Cortez José Veríssimo Fernandes Júnior Rui Ferreira da Silva Alain Gilbert Philippe Valenti Carlos Teixeira Brandt André Almeida Pinheiro Teles

OBJECTIVE to evaluate the results from and parents' satisfaction with treatment for children with syndactyly who were operated at the "SOS Hand Recife" hospital between 2005 and 2009. METHODS data for assessing the results were gathered from the patients' medical files. The subjective scores, which were ascertained prospectively, were as follows: greater than or equal to 9, good result; betwe...

Journal: :Journal of epidemiology and community health 1995
I Leck R J Lancashire

STUDY OBJECTIVES The aims were: (1) to compare the birth prevalence of malformations in different ethnic groups and (2) to explore the reasons for the ethnic variations found by examining birth prevalence in the offspring of matings between ethnic groups. DESIGN Analysis of data from a register of malformations and register of births. SETTING Birmingham, England. SUBJECTS A total of 432,7...

Journal: :Archives of Hand and Microsurgery 2018

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