The Experts below are selected from a list of 165 Experts worldwide ranked by ideXlab platform
D Garciacruz - One of the best experts on this subject based on the ideXlab platform.
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split Hand Malformation hypospadias microphthalmia distinctive face and short stature in two brothers suggest a new syndrome
American Journal of Medical Genetics Part A, 2005Co-Authors: Jose E Garciaortiz, Felipe Bandaespinoza, Juan C Zenteno, Luz M Galvanuriarte, Pablo Ruizflores, D GarciacruzAbstract:Split Hand/foot Malformation (SHFM) is a genetically heterogeneous limb Malformation that may be isolated or associated with other Malformations. More than 50 recognizable entities with SHFM have been described and at least 5 mapped genetic loci have been implicated. Two brothers with intrauterine growth retardation, short stature, distinctive face, microphthalmia, genital anomalies, and SHFM are described. Molecular analyses of TP63, HOXA13, and HOXD13 genes were normal. We propose this pattern to be a newly recognized SHFM syndrome. © 2005 Wiley-Liss, Inc.
Steven E.r. Hovius - One of the best experts on this subject based on the ideXlab platform.
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controversies in poland syndrome alternative diagnoses in patients with congenital pectoral muscle deficiency
Journal of Hand Surgery (European Volume), 2017Co-Authors: Martijn Baas, Elise B Burger, Dimitri Sneiders, Robertjan H Galjaard, Steven E.r. Hovius, Christianne A Van NieuwenhovenAbstract:PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. METHODS: A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, Hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of Hand, thorax, and other deformities. RESULTS: One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral Malformation, a Hand Malformation, and another deformity had at least 1feature that matched an alternative syndrome. CONCLUSIONS: Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. CLINICAL RELEVANCE: Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.
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Genetics of limb development and congenital Hand Malformations
Plastic and Reconstructive Surgery, 1998Co-Authors: J. Zguricas, Wendela F. Bakker, Henk C. Heus, Dick Lindhout, Peter Heutink, Steven E.r. HoviusAbstract:The vertebrate limb bud develops along three different axes: proximodistal, anteroposterior, and dorsoventral. Several genetic factors responsible for control of each of the three limb axes have been identified. The genes involved interact in complex feedback loops to achieve proper arrangement and differentiation of tissues. Most of the available information on limb development and patterning has come from studies carried out in the lower vertebrates. In recent years, an increasing number of studies have been unraveling the genetic basis of human Hand Malformation phenotypes. At present, genes responsible for preaxial polydactyly, split Hand/split foot Malformation, and brachydactyly type C have been localized, and the gene responsible for synpolydactyly has been identified. In this paper, we present an overview of the genetic factors involved in limb development, followed by summarized discoveries in the genetics of human congenital Hand Malformations.
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Psychomotor development in children with triphalangeal thumbs. A preliminary study.
Journal of hand surgery (Edinburgh Scotland), 1998Co-Authors: J. Zguricas, Dick Lindhout, D. M. J. De Raeymaecker, P.j.l.m. Snijders, A. Hoekstra, Steven E.r. HoviusAbstract:In order to explore the influence of an isolated congenital Hand Malformation on psychomotor development, we performed an exploratory, observational study on 18 children with triphalangeal thumbs. The investigative procedure consisted of a Hand function examination, a semi-structured interview with the mother about the development of the child, the so-called “Hand test”, and the “Child Behaviour Check List”. Our observations suggest specific developmental difficulties in fine motor skills and language development, but the children showed no signs of behavioural psychopathology.
Christianne A Van Nieuwenhoven - One of the best experts on this subject based on the ideXlab platform.
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controversies in poland syndrome alternative diagnoses in patients with congenital pectoral muscle deficiency
Journal of Hand Surgery (European Volume), 2017Co-Authors: Martijn Baas, Elise B Burger, Dimitri Sneiders, Robertjan H Galjaard, Steven E.r. Hovius, Christianne A Van NieuwenhovenAbstract:PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. METHODS: A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, Hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of Hand, thorax, and other deformities. RESULTS: One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral Malformation, a Hand Malformation, and another deformity had at least 1feature that matched an alternative syndrome. CONCLUSIONS: Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. CLINICAL RELEVANCE: Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.
Brian H.y. Chung - One of the best experts on this subject based on the ideXlab platform.
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mechanisms for the generation of two quadruplications associated with split Hand Malformation
Human Mutation, 2016Co-Authors: Jennifer E. Posey, Bo Yuan, Claudia M.b. Carvalho, Hm Luk, Kelly Erikson, Gordon K.c. Leung, Curtis R. Pickering, Brian H.y. Chung, James R LupskiAbstract:Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-Hand Malformation; clinical microarray detected two maternally inherited triplications separated by a copy-number neutral region at 17p13.3, involving BHLHA9 and part of YWHAE. Here, we describe an 18-month-old male sibling of the previously described fetus with split-Hand Malformation. Custom high-density microarray and digital droplet PCR revealed the copy-number gains were actually quadruplications in the mother, the fetus, and her later born son. This quadruplication-normal-quadruplication pattern was shown to be expanded from the triplication-normal-triplication CNV at the same loci in the maternal grandmother. We mapped two breakpoint junctions and demonstrated that both are mediated by Alu repetitive elements and identical in these four individuals. We propose a three-step process combining Alu-mediated replicative-repair-based mechanism(s) and intergenerational, intrachromosomal nonallelic homologous recombination to generate the quadruplications in this family.
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Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation
Human mutation, 2015Co-Authors: Jennifer E. Posey, Bo Yuan, Claudia M.b. Carvalho, Hm Luk, Kelly Erikson, Gordon K.c. Leung, Curtis R. Pickering, Brian H.y. ChungAbstract:Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-Hand Malformation; clinical microarray detected two maternally inherited triplications separated by a copy-number neutral region at 17p13.3, involving BHLHA9 and part of YWHAE. Here, we describe an 18-month-old male sibling of the previously described fetus with split-Hand Malformation. Custom high-density microarray and digital droplet PCR revealed the copy-number gains were actually quadruplications in the mother, the fetus, and her later born son. This quadruplication-normal-quadruplication pattern was shown to be expanded from the triplication-normal-triplication CNV at the same loci in the maternal grandmother. We mapped two breakpoint junctions and demonstrated that both are mediated by Alu repetitive elements and identical in these four individuals. We propose a three-step process combining Alu-mediated replicative-repair-based mechanism(s) and intergenerational, intrachromosomal nonallelic homologous recombination to generate the quadruplications in this family.
D. Gül - One of the best experts on this subject based on the ideXlab platform.
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A boy with Weyers-like ulnar ray/oligodactyly reduction limb defects and split Hand Malformation: case report.
Genetic counseling (Geneva Switzerland), 2011Co-Authors: Tülay Tos, Ali Karaman, D. GülAbstract:Weyers ulnar ray/oligodactyly syndrome is characterized by variable ulnar, radial, or fibular ray limb reductions, single central incisor, and renal, splenic or cardiac anomalies. Split Hand/split foot Malformation is a central reduction defect of the Hands and feet, and may occur either as an isolated Malformation or as a part of syndrome. We describe a patient with Weyers-like ulnar ray/oligodactyly reduction limb defects and split Hand Malformation.
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a boy with weyers like ulnar ray oligodactyly reduction limb defects and split Hand Malformation case report
Genetic Counseling, 2011Co-Authors: Tülay Tos, Ali Karaman, D. GülAbstract:Weyers ulnar ray/oligodactyly syndrome is characterized by variable ulnar, radial, or fibular ray limb reductions, single central incisor, and renal, splenic or cardiac anomalies. Split Hand/split foot Malformation is a central reduction defect of the Hands and feet, and may occur either as an isolated Malformation or as a part of syndrome. We describe a patient with Weyers-like ulnar ray/oligodactyly reduction limb defects and split Hand Malformation.
