The Experts below are selected from a list of 33 Experts worldwide ranked by ideXlab platform
Nur C. Semerci - One of the best experts on this subject based on the ideXlab platform.
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Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family
2015Co-Authors: Özmert M. A. Özdemir, İlknur Kılıç, Tamer Özsarı, Alper B. Kılıç, Laurence Faivre, Bernard Aral, Dolunay Gürses, Nur C. SemerciAbstract:Gürses D, Semerci CN. Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. Turk J Pediatr 2009; 51: 631-636. Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and pre-axial upper-limb malformations, and it has an autosomal recessive inheritance. Valproate syndrome occurs after exposure to valproic acid in utero, and is characterized by trigonocephaly. Both syndromes can also present with other malformations. Herein, we report a female newborn and her brother who both had a history of fetal exposure to maternal anti-epileptic drugs, especially sodium valproate. On physical examination of the female patient, craniosynostosis, trigonocephaly, right Radius aplasia and hypoplastic thumb, and cardiac and renal malformations were determined, and she was diagnosed with BGS phenotype. The brother’s examination revealed trigonocephaly, polymastia and hypospadias, and he was diagnosed with valproate syndrome. Based on these patients, we aimed to add further evidence in the literature indicating that the use of sodium valproate alone and in combination with other anti-epileptic drugs throughout pregnancy can increase the risk of serious fetal congenital malformations depending on the doses. Key words: craniosynostosis, absence/hypoplasia of thumb, trigonocephaly, polymastia, RECQL4, Baller-Gerold syndrome, valproate syndrome, maternal anti-epileptic drugs. Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and pre-axial upper-limb malformations, and this disorder has an autosomal recessive inheritance pattern1-3. As a rare genetic disorder, it overlaps with other malformations, including cardiac, central nervous system (CNS), and urogenital anomalies2. Herein, we report a female newborn who was exposed to the use of Depakin (sodiu
Semerci C.nur - One of the best experts on this subject based on the ideXlab platform.
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Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: Both phenotypes in the same family
2009Co-Authors: Özdemir Özmert, Faivre L, Kılıç İlknur, Özsarı Tamer, Kılıç B.alper, Aral Bernard, Gürses Dolunay, Semerci C.nurAbstract:Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and preaxial upper-limb malformations, and it has an autosomal recessive inheritance. Valproate syndrome occurs after exposure to valproic acid in utero, and is characterized by trigonocephaly. Both syndromes can also present with other malformations. Herein, we report a female newborn and her brother who both had a history of fetal exposure to maternal anti-epileptic drugs, especially sodium valproate. On physical examination of the female patient, craniosynostosis, trigonocephaly, right Radius aplasia and hypoplastic thumb, and cardiac and renal malformations were determined, and she was diagnosed with BGS phenotype. The brother's examination revealed trigonocephaly, polymastia and hypospadias, and he was diagnosed with valproate syndrome. Based on these patients, we aimed to add further evidence in the literature indicating that the use of sodium valproate alone and in combination with other anti-epileptic drugs throughout pregnancy can increase the risk of serious fetal congenital malformations depending on the doses
Özmert M. A. Özdemir - One of the best experts on this subject based on the ideXlab platform.
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Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family
2015Co-Authors: Özmert M. A. Özdemir, İlknur Kılıç, Tamer Özsarı, Alper B. Kılıç, Laurence Faivre, Bernard Aral, Dolunay Gürses, Nur C. SemerciAbstract:Gürses D, Semerci CN. Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. Turk J Pediatr 2009; 51: 631-636. Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and pre-axial upper-limb malformations, and it has an autosomal recessive inheritance. Valproate syndrome occurs after exposure to valproic acid in utero, and is characterized by trigonocephaly. Both syndromes can also present with other malformations. Herein, we report a female newborn and her brother who both had a history of fetal exposure to maternal anti-epileptic drugs, especially sodium valproate. On physical examination of the female patient, craniosynostosis, trigonocephaly, right Radius aplasia and hypoplastic thumb, and cardiac and renal malformations were determined, and she was diagnosed with BGS phenotype. The brother’s examination revealed trigonocephaly, polymastia and hypospadias, and he was diagnosed with valproate syndrome. Based on these patients, we aimed to add further evidence in the literature indicating that the use of sodium valproate alone and in combination with other anti-epileptic drugs throughout pregnancy can increase the risk of serious fetal congenital malformations depending on the doses. Key words: craniosynostosis, absence/hypoplasia of thumb, trigonocephaly, polymastia, RECQL4, Baller-Gerold syndrome, valproate syndrome, maternal anti-epileptic drugs. Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and pre-axial upper-limb malformations, and this disorder has an autosomal recessive inheritance pattern1-3. As a rare genetic disorder, it overlaps with other malformations, including cardiac, central nervous system (CNS), and urogenital anomalies2. Herein, we report a female newborn who was exposed to the use of Depakin (sodiu
A P Tiazhelkov - One of the best experts on this subject based on the ideXlab platform.
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aplasia of the Radius of the hand
Ortopediia travmatologiia i protezirovanie, 1991Co-Authors: A P TiazhelkovAbstract:In the article is described the congenital pathology of the hand, characterized by the absence of one or several fingers with the corresponding metacarpal bones and bones of the wrist. There is given the clinical picture of 104 patients with the hand Radius aplasia. There are singled out main forms of pathology, presented the data of the additional investigation methods (angiography, rheovasography, histologic structure of the affected hand tissues). There are presented the main principles of the hand Radius aplasia treatment.
Özdemir Özmert - One of the best experts on this subject based on the ideXlab platform.
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Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: Both phenotypes in the same family
2009Co-Authors: Özdemir Özmert, Faivre L, Kılıç İlknur, Özsarı Tamer, Kılıç B.alper, Aral Bernard, Gürses Dolunay, Semerci C.nurAbstract:Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and preaxial upper-limb malformations, and it has an autosomal recessive inheritance. Valproate syndrome occurs after exposure to valproic acid in utero, and is characterized by trigonocephaly. Both syndromes can also present with other malformations. Herein, we report a female newborn and her brother who both had a history of fetal exposure to maternal anti-epileptic drugs, especially sodium valproate. On physical examination of the female patient, craniosynostosis, trigonocephaly, right Radius aplasia and hypoplastic thumb, and cardiac and renal malformations were determined, and she was diagnosed with BGS phenotype. The brother's examination revealed trigonocephaly, polymastia and hypospadias, and he was diagnosed with valproate syndrome. Based on these patients, we aimed to add further evidence in the literature indicating that the use of sodium valproate alone and in combination with other anti-epileptic drugs throughout pregnancy can increase the risk of serious fetal congenital malformations depending on the doses
