Results 61 to 70 of about 748 (171)
BMC Pediatrics, 2019 Background Fraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb’s congenital anomalies. The prognosis of this genetic disorder depends on the severity of the combination of congenital malformations, some of ...
Aimé Mbonda +4 more
doaj +1 more source
Manitoba Oculotrichoanal Syndrome: First Case Report From India
Delhi Journal of Ophthalmology, 2016 Manitoba-oculo-tricho-anal (MOTA) syndrome is very rare syndrome characterized by aberrant hairline, eye anomalies (ocular hypertelorism, cryptophthalmos, and upper eyelid colobomas), bifid nose, omphalocele and anorectal anomalies.
Sai Rani Karanam +3 more
doaj +1 more source
Indian Journal of Ophthalmology, 2015 Background/Aims: Information on eye diseases in blind school children in Allahabad is rare and sketchy. A cross-sectional study was performed to identify causes of blindness (BL) in blind school children with an aim to gather information on ocular ...
Sushank Ashok Bhalerao +5 more
doaj +1 more source
PLoS Genetics, 2010 Using forward genetics, we have identified the genes mutated in two classes of zebrafish fin mutants. The mutants of the first class are characterized by defects in embryonic fin morphogenesis, which are due to mutations in a Laminin subunit or an ...
Thomas J Carney +13 more
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Anophthalmia and microphthalmia
Orphanet Journal of Rare Diseases, 2007 Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11%
Verma Amit S, FitzPatrick David R
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Global PediatricsBackground: Fraser syndrome is a very rare genetic disorder with multiple organ-system abnormalities. The diagnosis is usually made on the basis of clinical examination, and management requires a multidisciplinary approach.
Turyalai Hakimi, Mansoor Aslamzai
doaj +1 more source
Fraser of cryptophthalmosis syndrome: A case report [PDF]
, 2004 Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Haidary, K. +3 more
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Isolated Bilateral Cryptophthalmos
Qatar Medical Journal, 2007 We report a male, Qatari infant, born in September 2001 at Hamad Medical Corporation (Doha, Qatar) with bilateral, asymmetric cryptophthalmos. Parents presented first degree familial consanguinity, but negative for ocular abnormalities. General physical examination was unremarkable. Ocular exam showed incomplete variety in the right eye and complete on
V. R. Rodriguez +2 more
openaire +1 more source
Clinical Manifestations And Oral Findings In Fraser Syndrome [PDF]
, 2015 This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient.
De Paula A.B. +4 more
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