Blepharophimosis

03/01/2012 - "All the patients took oral vitamin B, and received rehabilitation training, 1 patient took carbamazepine for 1 month, blepharophimosis and limbs stiffness was improved. "

03/01/2012 - "All the patients took oral vitamin B, and received rehabilitation training, 1 patient took carbamazepine for 1 month, blepharophimosis and limbs stiffness was improved. "

04/28/1998 - "We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, J Med Genet 32:809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies."
04/28/1998 - "Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face."

04/01/2015 - "A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone."
04/01/2015 - "We report the association of a case of pediatric alopecia areata with a rare genetic syndrome-blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which responded well to topical immunotherapy with diphenylcyclopropenone. "

03/01/2011 - "Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)."
09/01/2009 - "Previous studies found that the forkhead transcription factor 2 (FOXL2) gene mutations are responsible for both types of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) but have not established any systematic statistic model for the complex and even contradictory results about genotype-phenotype correlations between them. "
06/01/2007 - "The aim of this study was to investigate the effect of mutations of the forkhead transcription factor 2 (FOXL2) gene on the primary and secondary structure of the coded protein and seek for the molecular mechanism of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). "
07/15/2012 - "FOXL2 transcription factor is responsible for the Blepharophimosis Ptosis Epicantus inversus Syndrome (BPES), a genetic disease involving craniofacial malformations often associated with ovarian failure. "
12/01/2011 - "Foxl2, a member of forkhead-box transcription factor family, is the key gene for ovary development and its mutation causes the blepharophimosis ptosis epicanthus inversus syndrome in human. "

05/01/2012 - "The purpose of this study was to report the functional and cosmetic outcome of single stage surgical procedure for correction of the classic components of Blepharophimosis syndrome. "
03/01/2013 - "Y-V medial canthoplasty with medial canthal shortening in Blepharophimosis syndrome has excellent cosmetic outcome."
03/01/2013 - "To determine the cosmetic outcome of Y-V medial canthoplasty with medial canthal tendon shortening in Blepharophimosis syndrome. "
03/01/2013 - "Cosmetic outcome of Y-V medial canthoplasty in blepharophimosis syndrome."
10/01/1981 - "The natural history of CET is that with time the epicanthal folds disappear and the telecanthus becomes insignificant, but the ptosis and the blepharophimosis remain functional and cosmetic problems. "

01/01/1988 - "The Marden-Walker syndrome is a rare entity associating neonatal arthrogryposis and blepharophimosis with autosomal recessive inheritance. "
01/01/2000 - "The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. "
06/01/1993 - "The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. "
03/01/1985 - "A case of Marden-Walker syndrome with its typical facies, blepharophimosis, congenital joint contractures, mental handicap and other anomalies is reported in a 29-year-old female and the literature reviewed. "
09/01/2013 - "We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. "

05/01/2014 - "Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. "
10/08/2010 - "Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal-recessive disorder characterized by distinctive craniofacial features, which include blepharophimosis, malar and/or maxillary hypoplasia, a narrow and beaked nose, and an everted lower lip. "
12/01/2010 - "Van Den Ende-Gupta syndrome (VDEGS) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge, and everted lower lip. "
06/01/2009 - "van den Ende-Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion, arachnodactyly, camptodactyly, and long slender bones of hands and feet. "
04/30/2003 - "This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and distinctive skeletal findings. "

05/01/2010 - "The peculiar face of individuals with Dubowitz syndrome includes sparse hair and eyebrows, low-set ears, blepharophimosis, bilateral ptosis, a flat nasal bridge with a broad nasal root and micrognathia. "
01/01/1992 - "Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?"
01/01/2011 - "Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. "
04/01/1986 - "The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. "
01/01/2011 - "Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. "

03/07/2014 - "Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins."
10/01/2011 - "Premature ovarian failure in the autosomal dominant disorder blepharophimosis-ptosis-epicanthus inversus is due to mutations in the gene encoding Forkhead L2 (FOXL2), producing putative truncated proteins. "
07/01/2010 - "Human FOXL2 mutations that produce truncated proteins lacking the COOH terminus result in blepharophimosis/ptosis/epicanthus inversus (BPES) syndrome type I, which is associated with premature ovarian failure (POF). "
07/01/1999 - "Genes located on the X chromosome, genes involved in blepharophimosis, in galactosemia code for proteins involved in follicular atresia. "

04/01/2015 - "We report the association of a case of pediatric alopecia areata with a rare genetic syndrome-blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which responded well to topical immunotherapy with diphenylcyclopropenone. "

01/01/2015 - "Rail-roading technique using 18 gauge intravenous catheter and silicon rod for frontalis suspension in blepharophimosis syndrome."

06/01/1994 - "A flattened and widened nasal bridge should be repaired by using bone grafts in addition to medial canthoplasty and fascial suspension in blepharophimosis."
06/01/1994 - "We have surgically treated five cases of blepharophimosis by a procedure in which nasal bone graft, medial canthoplasty, and fascial suspension are performed in one stage. "

06/01/1981 - "The first infant has failure to thrive, retardation in development, normal head circumference with ridged metopic suture, blepharophimosis, epicanthal folds, mild hypotelorism, small low-set ears, and a bifid right toe. "

11/01/2015 - "Cosmetic Comparison Between the Modified Uchida Method and the Mustarde Method for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome."