نتایج جستجو برای: poly syndactyly
تعداد نتایج: 81139 فیلتر نتایج به سال:
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.
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 ...
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,...
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...
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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