The Experts below are selected from a list of 228 Experts worldwide ranked by ideXlab platform
M Levy - One of the best experts on this subject based on the ideXlab platform.
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Postaxial acrofacial Dysostosis (Miller) syndrome: a new case.
Journal of medical genetics, 1991Co-Authors: J Vigneron, M Stricker, P Vert, J M Rousselot, M LevyAbstract:We describe a new case of postaxial acrofacial Dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial Dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.
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Postaxial acrofacial Dysostosis (Miller) syndrome: a
1991Co-Authors: Servicede P, M LevyAbstract:We describe anewcaseofpostaxial acrofacial Dysostosis (Miller) syndrome.Thissyndrome consists ofmandibulofacial Dysostosis, similar tothatseeninTreacherCollins syndrome, andpostaxial limbdeficiency. The mode of inheritance remainsuncertain. The infant reported herehadthecharacteristic features ofMiller syndrome; however, theinitial severity oftherespiratory problems isnoteworthy. Family history showednoother abnormal findings. We feel that, because oftheisolated nature ofthis case, speculation aboutthemodeofinheritance is inappropriate. Genetic counselling requires caution andcareful prenatal surveillance withultrasonographic evaluation isindicated. Casereport Theproband, aboy,wasbornat40weeks' gestation, tohealthy, non-consanguineous parents. Birth weight was3450g.Hemeasured 48cminlength and hadaheadcircumference of36cm.Themother took nomedication norwassheexposed toanyteratogenic agentduring anotherwise normal pregnancy.
Ercan Mihci - One of the best experts on this subject based on the ideXlab platform.
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possible autosomal recessive inheritance in an infant with acrofacial Dysostosis similar to nager syndrome
American Journal of Medical Genetics Part A, 2013Co-Authors: Banu Guzel Nur, Francois P Bernier, Osman Oztekin, Firat Kardelen, Salih Kalay, Jillian S Parboosingh, Ercan MihciAbstract:The acrofacial Dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs, are a clinically heterogeneous group of disorders. Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial Dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial Dysostosis. Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial Dysostosis. Most cases are sporadic, while autosomal dominant and autosomal recessive inheritance patterns have been reported. Recently, heterozygous mutations in the SF3B4 gene on chromosome 1q12–q21 were found to be responsible for a subset of sporadic and autosomal dominant cases. We present a female infant born to consanguineous parents with craniofacial features resembling Nager syndrome and a unilateral preaxial limb malformation. Mutation analysis of coding exons of SF3B4 did not identify any mutations. This couple also had a deceased child who had similar clinical features. We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome. © 2013 Wiley Periodicals, Inc.
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possible autosomal recessive inheritance in an infant with acrofacial Dysostosis similar to nager syndrome
American Journal of Medical Genetics Part A, 2013Co-Authors: Banu Guzel Nur, Francois P Bernier, Osman Oztekin, Firat Kardelen, Salih Kalay, Jillian S Parboosingh, Ercan MihciAbstract:The acrofacial Dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs, are a clinically heterogeneous group of disorders. Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial Dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial Dysostosis. Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial Dysostosis. Most cases are sporadic, while autosomal dominant and autosomal recessive inheritance patterns have been reported. Recently, heterozygous mutations in the SF3B4 gene on chromosome 1q12-q21 were found to be responsible for a subset of sporadic and autosomal dominant cases. We present a female infant born to consanguineous parents with craniofacial features resembling Nager syndrome and a unilateral preaxial limb malformation. Mutation analysis of coding exons of SF3B4 did not identify any mutations. This couple also had a deceased child who had similar clinical features. We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome.
Alain Verloes - One of the best experts on this subject based on the ideXlab platform.
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child with manifestations of nager acrofacial Dysostosis and the murcs vacterl and pulmonary agenesis associations complex defect of blastogenesis
American Journal of Medical Genetics, 1996Co-Authors: Albert David, Jacques Mercier, Alain VerloesAbstract:Nager acrofacial Dysostosis (NAFD) combines the facial anomalies of mandibulofacial Dysostosis (Treacher-Collins-Francescetti) with hypoplastic/aplastic or triphangeal thumbs. The MURCS association consists of Mullerian duct aplasia, renal aplasia, cervicothoracic somite Dysostosis with Klippel-Feil anomaly, and often defects of the facio-auriculo-vertebral (Goldenhar) spectrum. We describe a child with NAFD, MURCS anomaly (Klippel-Feil anomaly, vertebral synostoses, left renal agenesis), and left pulmonary agenesis. Our proband appears to express a unique anomaly of blastogenesis, simultaneously affecting the acrorenal, the mandibulofacial, and the cervicothoracic developmental fields, combining clinical manifestations of the MURCS, NAFD, VACTERL, and pulmonary agenesis associations. All anomalies may be traced back to abnormal blastogenesis, occurring during the third or the fourth week of embryonic development, and show that NAFD is a polytopic developmental field defect. © 1996 Wiley-Liss, Inc.
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Child with manifestations of Nager acrofacial Dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis?
American Journal of Medical Genetics, 1996Co-Authors: Albert David, Jacques Mercier, Alain VerloesAbstract:Nager acrofacial Dysostosis (NAFD) combines the facial anomalies of mandibulofacial Dysostosis (Treacher-Collins-Francescetti) with hypoplastic/aplastic or triphangeal thumbs. The MURCS association consists of Mullerian duct aplasia, renal aplasia, cervicothoracic somite Dysostosis with Klippel-Feil anomaly, and often defects of the facio-auriculo-vertebral (Goldenhar) spectrum. We describe a child with NAFD, MURCS anomaly (Klippel-Feil anomaly, vertebral synostoses, left renal agenesis), and left pulmonary agenesis. Our proband appears to express a unique anomaly of blastogenesis, simultaneously affecting the acrorenal, the mandibulofacial, and the cervicothoracic developmental fields, combining clinical manifestations of the MURCS, NAFD, VACTERL, and pulmonary agenesis associations. All anomalies may be traced back to abnormal blastogenesis, occurring during the third or the fourth week of embryonic development, and show that NAFD is a polytopic developmental field defect.
J Vigneron - One of the best experts on this subject based on the ideXlab platform.
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Postaxial acrofacial Dysostosis (Miller) syndrome: a new case.
Journal of medical genetics, 1991Co-Authors: J Vigneron, M Stricker, P Vert, J M Rousselot, M LevyAbstract:We describe a new case of postaxial acrofacial Dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial Dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.
Banu Guzel Nur - One of the best experts on this subject based on the ideXlab platform.
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possible autosomal recessive inheritance in an infant with acrofacial Dysostosis similar to nager syndrome
American Journal of Medical Genetics Part A, 2013Co-Authors: Banu Guzel Nur, Francois P Bernier, Osman Oztekin, Firat Kardelen, Salih Kalay, Jillian S Parboosingh, Ercan MihciAbstract:The acrofacial Dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs, are a clinically heterogeneous group of disorders. Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial Dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial Dysostosis. Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial Dysostosis. Most cases are sporadic, while autosomal dominant and autosomal recessive inheritance patterns have been reported. Recently, heterozygous mutations in the SF3B4 gene on chromosome 1q12–q21 were found to be responsible for a subset of sporadic and autosomal dominant cases. We present a female infant born to consanguineous parents with craniofacial features resembling Nager syndrome and a unilateral preaxial limb malformation. Mutation analysis of coding exons of SF3B4 did not identify any mutations. This couple also had a deceased child who had similar clinical features. We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome. © 2013 Wiley Periodicals, Inc.
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possible autosomal recessive inheritance in an infant with acrofacial Dysostosis similar to nager syndrome
American Journal of Medical Genetics Part A, 2013Co-Authors: Banu Guzel Nur, Francois P Bernier, Osman Oztekin, Firat Kardelen, Salih Kalay, Jillian S Parboosingh, Ercan MihciAbstract:The acrofacial Dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs, are a clinically heterogeneous group of disorders. Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial Dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial Dysostosis. Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial Dysostosis. Most cases are sporadic, while autosomal dominant and autosomal recessive inheritance patterns have been reported. Recently, heterozygous mutations in the SF3B4 gene on chromosome 1q12-q21 were found to be responsible for a subset of sporadic and autosomal dominant cases. We present a female infant born to consanguineous parents with craniofacial features resembling Nager syndrome and a unilateral preaxial limb malformation. Mutation analysis of coding exons of SF3B4 did not identify any mutations. This couple also had a deceased child who had similar clinical features. We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome.
