The Experts below are selected from a list of 588 Experts worldwide ranked by ideXlab platform

R. Morger - One of the best experts on this subject based on the ideXlab platform.

N Sarioglu - One of the best experts on this subject based on the ideXlab platform.

  • Autosomal recessive type of Adams–Oliver Syndrome: prenatal diagnosis
    Ultrasound in Obstetrics and Gynecology, 2002
    Co-Authors: Rolf Becker, Jürgen Kunze, Denise Horn, A. Gasiorek‐wiens, Michael Entezami, R Rossi, M. Guschmann, N Sarioglu
    Abstract:

    We report on three pregnancies complicated by Adams-Oliver Syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams-Oliver Syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, the diagnosis of Adams-Oliver Syndrome was made following termination of pregnancy at 27+2 weeks' gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams-Oliver Syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder.

  • autosomal recessive type of Adams Oliver Syndrome prenatal diagnosis
    Ultrasound in Obstetrics & Gynecology, 2002
    Co-Authors: Rolf Becker, Jürgen Kunze, Denise Horn, Michael Entezami, R Rossi, M. Guschmann, A Gasiorekwiens, N Sarioglu
    Abstract:

    We report on three pregnancies complicated by Adams-Oliver Syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams-Oliver Syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, the diagnosis of Adams-Oliver Syndrome was made following termination of pregnancy at 27+2 weeks' gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams-Oliver Syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder.

Edgar Jaeggi - One of the best experts on this subject based on the ideXlab platform.

Wim Wuyts - One of the best experts on this subject based on the ideXlab platform.

  • Adams-Oliver Syndrome caused by mutations of the EOGT gene.
    American Journal of Medical Genetics Part A, 2019
    Co-Authors: Kim C. Schröder, Duygu Duman, Mustafa Tekin, Denny Schanze, Maja Sukalo, Josephina A.n. Meester, Wim Wuyts, Martin Zenker
    Abstract:

    Adams-Oliver Syndrome (AOS) is a rare congenital disease characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It shows significant genetic heterogeneity and can be transmitted by autosomal dominant or recessive inheritance. Recessive inheritance is associated with mutations of DOCK6 or EOGT; however, only few cases have been published so far. We present two families with EOGT-associated AOS. Due to pseudodominance in one family, the recognition of the recessive inheritance pattern was difficult. We identified two novel AOS-causing mutations (c.404G>A/p.Cys135Tyr and c.311+1G>T). The phenotype in the presented families was dominated by large ACC, whereas TTLD were mostly subtle or even absent and no major malformations occured. Our observations along with the previously published cases indicate that the two types of recessive AOS (EOGT- vs. DOCK6-associated) differ significanty regarding the frequency of neurologic or ocular deficits.

  • Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver Syndrome and ARHGAP31 mutations.
    American Journal of Medical Genetics Part A, 2014
    Co-Authors: Mala Isrie, Wim Wuyts, Hilde Van Esch, Koenraad Devriendt
    Abstract:

    Adams-Oliver Syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in ARHGAP31 and RBPJ have been found causing autosomal dominant forms of AOS. We describe a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31. This finding underscores the relevance of sequencing ARHGAP31 in similar cases of isolated limb defects, irrespective of the presence of a complete AOS phenotype. We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance.

  • Adams-Oliver Syndrome: clinical description of a four-generation family and exclusion of five candidate genes.
    Clinical Genetics, 2005
    Co-Authors: Pieter Verdyck, Muriel Holder-espinasse, B Blaumeiser, W. Van Hul, Wim Wuyts
    Abstract:

    We present a Belgian Adams-Oliver Syndrome (AOS) family with 10 affected individuals over four generations, of which six were available for this study. Clinical symptoms observed in these patients were very variable as previously reported in other families and included large areas of alopecia on the vertex of the skull and serious limb reduction defects with agenesis of all toes of one foot. To identify the disease-causing gene, we sequenced the MSX1, CART1, P63 (P73L), RUNX2, and HOXD13 genes in this family and nine previously reported families, but no disease-causing mutations were found. Further investigation is ongoing in these families in order to identify the genetic cause of AOS.

  • Clinical and molecular analysis of nine families with Adams–Oliver Syndrome
    European Journal of Human Genetics, 2003
    Co-Authors: Pieter Verdyck, Muriel Holder-espinasse, Wim Wuyts
    Abstract:

    Adams–Oliver Syndrome (AOS) is defined by the combination of limb abnormalities and scalp defects, often accompanied by skull ossification defects. We studied nine families affected with AOS, eight of which have not been clinically described before. In our patients, scalp abnormalities were most often found, followed by limb and skull defects. The most common limb abnormalities appeared to be brachydactyly, syndactyly of toes 2 and 3 and hypoplastic toenails. Additional features observed were cutis marmorata telangiectatica congenita, cryptorchidism and cardiac abnormalities. In an attempt to identify the disease-causing mutations in our families, we selected two genes, ALX4 and MSX2 , which were considered serious candidates based on their known function in skull and limb development. Mutation analysis of both genes, performed by direct sequencing, identified several polymorphisms, but no disease-causing mutations. Therefore, we can conclude that the AOS in our set of patients is not caused by mutations in ALX4 or MSX2 .

  • Clinical and molecular analysis of nine families with Adams-Oliver Syndrome
    European Journal of Human Genetics, 2003
    Co-Authors: Pieter Verdyck, Muriel Holder-espinasse, Wim Van Hul, Wim Wuyts
    Abstract:

    Adams-Oliver Syndrome (AOS) is defined by the combination of limb abnormalities and scalp defects, often accompanied by skull ossification defects. We studied nine families affected with AOS, eight of which have not been clinically described before. In our patients, scalp abnormalities were most often found, followed by limb and skull defects. The most common limb abnormalities appeared to be brachydactyly, syndactyly of toes 2 and 3 and hypoplastic toenails. Additional features observed were cutis marmorata telangiectatica congenita, cryptorchidism and cardiac abnormalities. In an attempt to identify the disease-causing mutations in our families, we selected two genes, ALX4 and MSX2, which were considered serious candidates based on their known function in skull and limb development. Mutation analysis of both genes, performed by direct sequencing, identified several polymorphisms, but no disease-causing mutations. Therefore, we can conclude that the AOS in our set of patients is not caused by mutations in ALX4 or MSX2.

Ola Skjeldal - One of the best experts on this subject based on the ideXlab platform.

  • Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: A variant of the Adams‐Oliver Syndrome?
    American Journal of Medical Genetics, 1995
    Co-Authors: Karen Helene Ørstavik, Petter Strømme, Sigmund Spetalen, Tor Flage, Jostein Westvik, Per Vesterhus, Ola Skjeldal
    Abstract:

    Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver Syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams-Oliver Syndrome, or a previously unrecognized Syndrome involving vascular disruption.

  • aplasia cutis congenita associated with limb eye and brain anomalies in sibs a variant of the Adams Oliver Syndrome
    American Journal of Medical Genetics, 1995
    Co-Authors: Karen Helene Ørstavik, Petter Strømme, Sigmund Spetalen, Tor Flage, Jostein Westvik, Per Vesterhus, Ola Skjeldal
    Abstract:

    Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver Syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams-Oliver Syndrome, or a previously unrecognized Syndrome involving vascular disruption.