The Experts below are selected from a list of 216 Experts worldwide ranked by ideXlab platform
David Bixler - One of the best experts on this subject based on the ideXlab platform.
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Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.
Clinical Genetics, 2008Co-Authors: Victor Escobar, Ira K. Brandt, David BixlerAbstract:: This report describes and discusses the very rare occurrence of two heritable traits, the Saethre-Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt-losing type) in a female infant whose father presents the clinical manifestations of Saethre-Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining Acrocephalosyndactyly and urogenital anomalies are discussed and compared.
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on the classification of the Acrocephalosyndactyly syndromes
Clinical Genetics, 2008Co-Authors: Victor Escobar, David BixlerAbstract:: This report describes a family in which two different types of Acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease. From the observations made in this family and from previous reports in the literature, we feel there is substantial reason to re-evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.
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the Acrocephalosyndactyly syndromes a metacarpophalangeal pattern profile analysis
Clinical Genetics, 2008Co-Authors: Victor Escobar, David BixlerAbstract:Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of Acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome. Six patients in a single family showing Pfeiffer syndrome exhibited this unique MCPP profile which was not present in non-affected family members. Furthermore, three normal-appearing relatives were identified as affected by this technique, and this diagnosis was subsequently confirmed by radiographic and genetic data. The results show that: 1) the MCPP in Pfeiffer and Chotzen syndromes is unique and can be used to make the diagnosis of an ACS syndrome in persons who show few or no clinical stigmata of disease; 2) the MCPP does not discriminate between these two ACS types.
Victor Escobar - One of the best experts on this subject based on the ideXlab platform.
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Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.
Clinical Genetics, 2008Co-Authors: Victor Escobar, Ira K. Brandt, David BixlerAbstract:: This report describes and discusses the very rare occurrence of two heritable traits, the Saethre-Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt-losing type) in a female infant whose father presents the clinical manifestations of Saethre-Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining Acrocephalosyndactyly and urogenital anomalies are discussed and compared.
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on the classification of the Acrocephalosyndactyly syndromes
Clinical Genetics, 2008Co-Authors: Victor Escobar, David BixlerAbstract:: This report describes a family in which two different types of Acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease. From the observations made in this family and from previous reports in the literature, we feel there is substantial reason to re-evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.
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the Acrocephalosyndactyly syndromes a metacarpophalangeal pattern profile analysis
Clinical Genetics, 2008Co-Authors: Victor Escobar, David BixlerAbstract:Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of Acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome. Six patients in a single family showing Pfeiffer syndrome exhibited this unique MCPP profile which was not present in non-affected family members. Furthermore, three normal-appearing relatives were identified as affected by this technique, and this diagnosis was subsequently confirmed by radiographic and genetic data. The results show that: 1) the MCPP in Pfeiffer and Chotzen syndromes is unique and can be used to make the diagnosis of an ACS syndrome in persons who show few or no clinical stigmata of disease; 2) the MCPP does not discriminate between these two ACS types.
Jonathan Reynhout - One of the best experts on this subject based on the ideXlab platform.
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Postmenarchal development of chylous ascites in Acrocephalosyndactyly with congenital lymphatic dysplasia.
Obstetrics and gynecology, 2020Co-Authors: Ronald E Batt, Stanley R Michalski, Thomas C Mahl, Jonathan ReynhoutAbstract:Acrocephalosyndactyly is a syndrome characterized by congenital malformation of the skull with craniosynostosis, midface hypoplasia, and symmetrical webbed fusion of the fingers and toes. We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with Acrocephalosyndactyly and congenital lymphatic dysplasia. A 25-year-old nulligravid woman with Acrocephalosyndactyly, at 18 months after menarche, developed persistent abdominal distension at age 18 years. Laparoscopy at age 25 years revealed chylous ascites with marked chronic peritoneal inflammation, and lymphatic dysplasia with lymphocysts. With hormone manipulation, the chylous ascites fluctuated. After menarche in a woman with Acrocephalosyndactyly, ovarian steroid hormones might have increased lymph production and hydrostatic pressure, causing rupture of congenitally dysplastic lymph vessels resulting in chylous ascites.
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postmenarchal development of chylous ascites in Acrocephalosyndactyly with congenital lymphatic dysplasia
Obstetrics & Gynecology, 2001Co-Authors: Ronald E Batt, Stanley R Michalski, Thomas C Mahl, Jonathan ReynhoutAbstract:Abstract Background: Acrocephalosyndactyly is a syndrome characterized by congenital malformation of the skull with craniosynostosis, midface hypoplasia, and symmetrical webbed fusion of the fingers and toes. We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with Acrocephalosyndactyly and congenital lymphatic dysplasia. Case: A 25-year-old nulligravid woman with Acrocephalosyndactyly, at 18 months after menarche, developed persistent abdominal distension at age 18 years. Laparoscopy at age 25 years revealed chylous ascites with marked chronic peritoneal inflammation, and lymphatic dysplasia with lymphocysts. With hormone manipulation, the chylous ascites fluctuated. Conclusion: After menarche in a woman with Acrocephalosyndactyly, ovarian steroid hormones might have increased lymph production and hydrostatic pressure, causing rupture of congenitally dysplastic lymph vessels resulting in chylous ascites.
Louise Brueton - One of the best experts on this subject based on the ideXlab platform.
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evidence for locus heterogeneity in Acrocephalosyndactyly a refined localization for the saethre chotzen syndrome locus on distal chromosome 7p and exclusion of jackson weiss syndrome from craniosynostosis loci on 7p and 5q
American Journal of Human Genetics, 1994Co-Authors: L Van Herwerden, C S P Rose, William Reardon, Louise Brueton, J Weissenbach, Sue Malcolm, R M WinterAbstract:Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod scores, Zmax, were 5.57 at a recombination fraction of .05, with D7S488, and 4.74 at a recombination fraction of .05, with D7S493. Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. Analysis of individual recombinants shows that the most likely position is between D7S493 and D7S516. Linkage data in regard of Jackson-Weiss syndrome demonstrate that this autosomal dominant form of Acrocephalosyndactyly does not map to the ACS III region on 7p or to the Acrocephalosyndactyly locus on 5q (Boston type). These findings underline the genetic heterogeneity among the different clinical conditions manifesting with Acrocephalosyndactyly.
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Themapping ofageneforcraniosynostosis : evidence forlinkage oftheSaethre-Chotzen syndrome todistal chromosome 7p
1992Co-Authors: Louise Brueton, K A Chotai, Robin M. WinterAbstract:Craniosynostosis or premature closure ofthecranial suturesisa common ab- normality occurring inabout1in2500 children. Thereisevidence ofmendelian inheritance insome 20% ofcases.Pub- lished reportsofpatients withstructural alterations oftheshortarm ofchromo- some 7havesuggested thattwo or more genes forcraniosynostosis may besitu- atedinthisregion. TheSaethre-Chotzen syndrome(Acrocephalosyndactyly type III) isone ofthemost common autosomal dominantcraniosynostosis syndromes. Resultsof moleculargeneticlinkage studies provideevidenceforlocalisation ofthegene responsible todistal chromo- some 7p. (JMedGenet1992;29:681-5)
R M Winter - One of the best experts on this subject based on the ideXlab platform.
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evidence for locus heterogeneity in Acrocephalosyndactyly a refined localization for the saethre chotzen syndrome locus on distal chromosome 7p and exclusion of jackson weiss syndrome from craniosynostosis loci on 7p and 5q
American Journal of Human Genetics, 1994Co-Authors: L Van Herwerden, C S P Rose, William Reardon, Louise Brueton, J Weissenbach, Sue Malcolm, R M WinterAbstract:Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod scores, Zmax, were 5.57 at a recombination fraction of .05, with D7S488, and 4.74 at a recombination fraction of .05, with D7S493. Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. Analysis of individual recombinants shows that the most likely position is between D7S493 and D7S516. Linkage data in regard of Jackson-Weiss syndrome demonstrate that this autosomal dominant form of Acrocephalosyndactyly does not map to the ACS III region on 7p or to the Acrocephalosyndactyly locus on 5q (Boston type). These findings underline the genetic heterogeneity among the different clinical conditions manifesting with Acrocephalosyndactyly.
