Results 61 to 70 of about 812 (180)
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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Klinika OcznaWe report a case of a full-term newborn Caucasian girl presenting at 10 days of age with bilateral absence of upper eyelid creases, extremely short palpebral fissures, and mucosal tissue covering both globes. B-scan ultrasonography and magnetic resonance
Kalina Trifonova, Kiril Slaveykov
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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
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Fraser syndrome without cryptophthalmos: Two cases
, 2020 Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies.
Manouvrier-Hanu, S +10 more
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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
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Fraser syndrome: case report [PDF]
, 2008 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.
Pinheiro, Regina Helena Rathsam +9 more
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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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, 2013 A–C) crf11 mice have a spectrum of eye defects that includes cryptophthalmos and microphthalmia. D) Deviation of the nasal bones (yellow arrow) is an example of the variable craniofacial defects seen in crf11 mice.
Oleg A. Shchelochkov (381761) +10 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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