The Experts below are selected from a list of 300 Experts worldwide ranked by ideXlab platform
Éva Oláh - One of the best experts on this subject based on the ideXlab platform.
-
Blepharophimosis mental retardation syndrome say barber biesecker young simpson type new findings with neuroimaging
American Journal of Medical Genetics Part A, 2011Co-Authors: Katalin Szakszon, Ervin Berényi, Andras Jakab, Beáta Bessenyei, Erzsébet Balogh, Tamás Köbling, Judit Szilvássy, Alida C. Knegt, Éva OláhAbstract:We report on a female patient with Blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, Blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain which showed inappropriate myelination and disturbed white matter integrity. Cytogenetic analysis, subtelomeric fluorescence in situ hybridization and comparative genomic hybridization failed to identify an abnormality. It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome.
-
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type – New findings with neuroimaging†
American Journal of Medical Genetics Part A, 2011Co-Authors: Katalin Szakszon, Ervin Berényi, Andras Jakab, Beáta Bessenyei, Erzsébet Balogh, Tamás Köbling, Judit Szilvássy, Alida C. Knegt, Éva OláhAbstract:We report on a female patient with Blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, Blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain which showed inappropriate myelination and disturbed white matter integrity. Cytogenetic analysis, subtelomeric fluorescence in situ hybridization and comparative genomic hybridization failed to identify an abnormality. It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome.
Roland Pfaffle - One of the best experts on this subject based on the ideXlab platform.
-
a new heterozygous mutation of the foxl2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with Blepharophimosis ptosis epicanthus inversus syndrome
European Journal of Endocrinology, 2005Co-Authors: Klemens Raile, Heike Stobbe, R B Trobs, Wieland Kiess, Roland PfaffleAbstract:Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with Blepharophimosis and ptosis. Subsequently she developed oligomenorrhea, secondary amenorrhea for 6 months, and an extremely large cyst of one ovary. The cyst contained 8 l of cyst fluid and histopathology displayed a large corpus luteum cyst. Following laparotomy, gonadotropin levels were elevated (LH 17.2 U/l, FSH 29.4 U/l) and estradiol levels decreased (67 pmol/l). Because of clinical aspects of BPES and abnormal ovarian function we suspected a mutation of her FOXL2 gene and found a new in-frame mutation (904_939dup36) on one allele, leading to a 12 alanine expansion within the polyalanine domain. We conclude that the FOXL2 mutation 904_939dup36 may account not only for Blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. In contrast to known FOXL2 mutations with polyalanine expansions and association with BPES type II, clinical aspects of our girl may indicate some degree of ovarian dysfunction that might finally lead to BPES type I with premature ovarian failure.
Katalin Szakszon - One of the best experts on this subject based on the ideXlab platform.
-
Blepharophimosis mental retardation syndrome say barber biesecker young simpson type new findings with neuroimaging
American Journal of Medical Genetics Part A, 2011Co-Authors: Katalin Szakszon, Ervin Berényi, Andras Jakab, Beáta Bessenyei, Erzsébet Balogh, Tamás Köbling, Judit Szilvássy, Alida C. Knegt, Éva OláhAbstract:We report on a female patient with Blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, Blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain which showed inappropriate myelination and disturbed white matter integrity. Cytogenetic analysis, subtelomeric fluorescence in situ hybridization and comparative genomic hybridization failed to identify an abnormality. It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome.
-
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type – New findings with neuroimaging†
American Journal of Medical Genetics Part A, 2011Co-Authors: Katalin Szakszon, Ervin Berényi, Andras Jakab, Beáta Bessenyei, Erzsébet Balogh, Tamás Köbling, Judit Szilvássy, Alida C. Knegt, Éva OláhAbstract:We report on a female patient with Blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, Blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain which showed inappropriate myelination and disturbed white matter integrity. Cytogenetic analysis, subtelomeric fluorescence in situ hybridization and comparative genomic hybridization failed to identify an abnormality. It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome.
Marc Fellous - One of the best experts on this subject based on the ideXlab platform.
-
Functional evidence implicating FOXL2 in non syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.
Journal of Medical Genetics, 2009Co-Authors: Paul Laissue, Besma Lakhal, Pascal Philibert, Ali Saâd, Charles Sultan, Bérénice A Benayoun, Aurélie Dipietromaria, Rim Braham, Hatem Elghezal, Marc FellousAbstract:encodes a transcription factor whose mutations are responsible for the Blepharophimosis-Ptosis-Epicanthus inversus Syndrome (BPES), involving craniofacial/palpebral abnormalities often associated with premature ovarian failure (POF).
A. Sakakibara - One of the best experts on this subject based on the ideXlab platform.
-
One-stage repair of Blepharophimosis.
Plastic and reconstructive surgery, 1991Co-Authors: T. Nakajima, Yohko Yoshimura, Kiyoshi Onishi, A. SakakibaraAbstract:Over the past 9 years, we have surgically treated 11 cases of congenital Blepharophimosis using a procedure in which levator resection and medial canthoplasty are performed in one stage