نتایج جستجو برای: poly syndactyly

تعداد نتایج: 81139  

Journal: :Orthopedics & Traumatology 1971

Journal: :Plastic and Reconstructive Surgery - Global Open 2020

Journal: :Journal of medical genetics 1992
J P Fryns J Delooz H Van Den Berghe

A 4 year old girl is described with severe mental retardation, peculiar face with nasal hypoplasia, sparse hair, genital hypoplasia, truncal obesity, puffy hands, and small feet with complete cutaneous syndactyly of the second and third toes.

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:...

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