The Experts below are selected from a list of 5256 Experts worldwide ranked by ideXlab platform
Paul C. Dell - One of the best experts on this subject based on the ideXlab platform.
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distal Limb Defects and aplasia cutis adams oliver syndrome
Journal of Hand Surgery (European Volume), 2016Co-Authors: Kevin J. Renfree, Paul C. DellAbstract:Adams–Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse Limb deficiencies and scalp Defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams–Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common Limb Defect, and severity ranges from hypoplastic nails to complete absence of the distal Limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and Limbs, during fetal development.
Ekkehart Lausch - One of the best experts on this subject based on the ideXlab platform.
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A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome
'MDPI AG', 2021Co-Authors: Isabel Schüle, Ekkehart Lausch, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Sarah C. Grünert, Miriam SchmidtsAbstract:Vertebral, Cardiac, Renal and Limb Defect Syndrome (VCRL), is a very rare congenital malformation syndrome. Pathogenic variants in HAAO (3-Hydroxyanthranilate 3,4-dioxygenase), NADSYN1 (NAD+ Synthetase-1) and KYNU (Kynureninase) have been identified in a handful of affected individuals. All three genes encode for enzymes essential for the NAD+ de novo synthesis pathway. Using Trio-Exome analysis and CGH array analysis in combination with long range PCR, we have identified a novel homozygous copy number variant (CNV) encompassing exon 5 of KYNU in an individual presenting with overlapping features of VCRL and Catel–Manzke Syndrome. Interestingly, only the mother, not the father carried the small deletion in a heterozygous state. High-resolution SNP array analysis subsequently delineated a maternal isodisomy of chromosome 2 (UPD2). Increased xanthurenic acid excretion in the urine confirmed the genetic diagnosis. Our findings confirm the clinical, genetic and metabolic phenotype of VCRL1, adding a novel functionally tested disease allele. We also describe the first patient with NAD+ deficiency disorder resulting from a UPD. Furthermore, we provide a comprehensive review of the current literature covering the genetic basis and pathomechanisms for VCRL and Catel–Manzke Syndrome, including possible phenotype/genotype correlations as well as genetic causes of hypoplastic left heart syndrome
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al awadi raas rothschild Limb pelvis uterus hypoplasia aplasia syndrome and wnt7a mutations genetic homogeneity and nosological delineation
American Journal of Medical Genetics Part A, 2011Co-Authors: Livia Garavelli, Anita Wischmeijer, Simonetta Rosato, Chiara Gelmini, Sandro Reverberi, Silvia Sassi, Adriano Ferrari, Francesca Mari, Bernhard Zabel, Ekkehart LauschAbstract:The Al-Awadi–Raas-Rothschild syndrome (AARRS; OMIM 276820) and the Fuhrmann syndrome (FS; OMIM 228930) are distinct Limb malformation disorders comprising different degrees of Limb aplasia or hypoplasia. In 2006, Woods et al. found different recessive WNT7A mutations in one family segregating the AARRS phenotype and in a second family with FS. To explain the common genetic basis for the two clinically distinct disorders, functional studies were done showing that partial loss of WNT7A function resulted in FS, while complete loss of WNT7A function resulted in the more severe phenotype of AARRS. In spite of the elucidation of the molecular basis of AARRS, there remains to this day considerable diagnostic confusion that has culminated in the lumping of Schinzel phocomelia syndrome with AARRS; however, this phocomelic Limb Defect is quite different in its clinical aspect and pathogenesis from the Limb findings of AARRS. Here, we report on a child with the AARRS phenotype and homozygosity for a non-conservative E72K mutation in WNT7A, underline the homogeneity of the WNT7A-associated AARRS phenotype, and propose differential diagnostic criteria for the AARRS reflecting the roles of WNT7A in Limb development. © 2010 Wiley-Liss, Inc.
Ignatius Losa - One of the best experts on this subject based on the ideXlab platform.
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Open Access
2013Co-Authors: Dilli Raj Bhurtel, Ignatius LosaAbstract:VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and Limb Defect) spectrum presenting with portal hypertension: a case repor
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vacterl vertebral anomalies anal atresia or imperforate anus cardiac anomalies tracheoesophageal fistula renal and Limb Defect spectrum presenting with portal hypertension a case report
Journal of Medical Case Reports, 2010Co-Authors: Dilli Raj Bhurtel, Ignatius LosaAbstract:Introduction We report for the first time a unique case of VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and Limb Defect) spectrum associated with portal hypertension. The occurrence of both VACTERL spectrum and extrahepatic portal hypertension in a patient has not been reported in the literature. We examined whether or not there was any association between extrahepatic portal hypertension and VACTERL spectrum.
Kevin J. Renfree - One of the best experts on this subject based on the ideXlab platform.
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distal Limb Defects and aplasia cutis adams oliver syndrome
Journal of Hand Surgery (European Volume), 2016Co-Authors: Kevin J. Renfree, Paul C. DellAbstract:Adams–Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse Limb deficiencies and scalp Defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams–Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common Limb Defect, and severity ranges from hypoplastic nails to complete absence of the distal Limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and Limbs, during fetal development.
Brigitte Gilbertdussardier - One of the best experts on this subject based on the ideXlab platform.
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split hand foot malformation with long bone deficiency and bhlha9 duplication report of 13 new families
Clinical Genetics, 2014Co-Authors: Florence Petit, Annesophie Jourdain, Joris Andrieux, Genevieve Baujat, Clarisse Baumann, Claire Beneteau, Albert David, Laurence Faivre, Dominique Gaillard, Brigitte GilbertdussardierAbstract:Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this Limb Defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.