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S Ozemri Sag, O Gorukmez, O Gorukmez, M Ture, S Sahinturk, A Topak, T Gulten, D Schanze, T Yakut, M Zenker
Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene...
2015: Genetic Counseling
No abstract text is available yet for this article.
October 1950: Medisch Maandblad
Rebecca J Richardson, Jan M Gebauer, Jin-Li Zhang, Birgit Kobbe, Douglas R Keene, Kristina Røkenes Karlsen, Stefânia Richetti, Alexander P Wohl, Gerhard Sengle, Wolfram F Neiss, Mats Paulsson, Matthias Hammerschmidt, Raimund Wagener
Fraser syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cutaneous syndactyly, and other malformations resulting from mutations in FRAS1, FREM2, and GRIP1. Transient embryonic epidermal blistering causes the characteristic defects of the disorder. Fras1, Frem1, and Frem2 form the extracellular Fraser complex, which is believed to stabilize the basement membrane. However, several cases of FS could not be attributed to mutations in FRAS1, FREM2, or GRIP1, and FS displays high clinical variability, suggesting that there is an additional genetic, possibly modifying contribution to this disorder...
May 2014: Journal of Investigative Dermatology
G Ogur, M Zenker, M Tosun, F Ekici, D Schanze, B Ozyilmaz, E Malatyalioglu
Fraser syndrome is a rare autosomal recessive genetic disorder characterized by cryptophthalmus, variable expression of cutaneous syndactyly of fingers and toes, genital ambiguity and renal agenesis/dysgenesis. We present here molecular and clinical findings of four fetuses with FS from two families. Molecular genetic studies in the two families revealed mutations in FRAS1 gene allowing better genetic counselling and subsequent prenatal diagnosis in one of the two families. In family one, a nonsense mutation (c...
2011: Genetic Counseling
Chumei Li, Sandra L Marles, Cheryl R Greenberg, Bernard N Chodirker, Jiddeke van de Kamp, Anne Slavotinek, Albert E Chudley
The Manitoba Oculotrichoanal (MOTA) syndrome was initially described by Marles et al. [1992; Am J Med Genet 42: 793-799] in Aboriginal patients of the Island Lake region of Northern Manitoba. Characteristic findings in affected patients included unilateral upper eyelid coloboma or cryptophthalmus with ipsilateral aberrant anterior hairline pattern and anal anomalies. We describe here seven new patients of the same extended kindred of Cree/Ojibway ethnicity of the Island Lake region and an eighth patient of Caucasian Dutch parents with clinical findings consistent with the diagnosis of MOTA syndrome...
April 15, 2007: American Journal of Medical Genetics. Part A
M G Kataev
The paper lays down the basic principles of ophthalmoplastic treatment on the basis of an analysis of the results of treatment and follow-ups of 2300 patients aged 6 months to 18 years who have abnormalities of the orbit and appendages of the eye. Emphasis is laid on the preference of methods for plastic repair, using local tissues, and free autologous grafting of the skin and mucosa. A soft material that is to be easy grown through, such as Carbotextim-carbonic felt, is recommended when contour plastic repair of the orbit is required...
March 2006: Vestnik Oftalmologii
L Gao, G Zhao
OBJECTIVE: To Provide a dependable and effective method for the treatment of blepharophimpsos. METHODS: In Blaskovics canthoplasty, a periosteum flap raised from the lateral orbit margin was turned over and fixed to the end of superiou tarsur. The operation was performed on 11 patients (13 lids), with blepharophimosis. Of whom 8 patients (8 lids) were serious blepharophimosis associated with cryptophthalmus or hollow socket; 3 patients (5 lids) were moderate. The epicanthus in 3 cases (4 lids) was corrected by Spaeth's technique...
January 2000: Zhonghua Zheng Xing Wai Ke za Zhi, Zhonghua Zhengxing Waike Zazhi, Chinese Journal of Plastic Surgery
T Ozgünen, C Evrüke, O Kadayifçi, C Demir, N Aridoğan, M A Vardar
In a consanguineous marriage, a woman at 32 weeks' pregnancy presented with intrauterine growth retardation and bilateral renal agenesis. Fraser syndrome (cryptophthalmus syndactyly syndrome) was diagnosed based on cryptophthalmos, atresia of meatus acusticus externus in auricula, syndactyly, hypoplastic larynx, hypoplastic left lung, agenesis of urinary system and aberrant pancreas in duodenum. The syndrome is inherited as a recessive trait and the risk of recurrence is 25%.
May 1995: International Journal of Gynaecology and Obstetrics
W Behrens-Baumann, G Dust, K Rittmeier, U Langenbeck, M Vogel
The authors report on two siblings with severe malformations of the eyes. The 16-year-old girl has bilateral microphthalmus with aplasia of the right optic nerve and a Dandy-Walker cyst of the cerebellum. The right eye has no optic disk or retinal vessels. Her 13-year-old brother has unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus. In a computer tomography examination no optic nerve could be demonstrated on the left. The presence of an oculocerebral dysplasia in a brother and sister with healthy parents suggest an autosomal-recessive mode of inheritance of the aplasia of the optic nerve with microphthalmus and/or cryptophthalmus...
August 1981: Klinische Monatsblätter Für Augenheilkunde
H Schönenberg
No abstract text is available yet for this article.
May 1973: Klinische Pädiatrie
R Liebl
This peper describes the rare cryptophthalmus syndrome combined with several other malformations of the urogenital tract and of the nose, in addition to dyscephalia and cutaneous syndactilism of fingers and toes. Because of a high incidence of parental consanguinity autosomal recessive heredity is discussed.
1979: Pädiatrie und Pädologie
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