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Beyhan Tüysüz - One of the best experts on this subject based on the ideXlab platform.

  • Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
    American journal of medical genetics. Part A, 2009
    Co-Authors: Beyhan Tüysüz, Safa Bariş, Figen Aksoy, Riza Madazli, Savaş Ungür, Lale Sever
    Abstract:

    Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell-shaped or long narrow short thorax and Brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell-shaped thorax and mild Brachydactyly, the one patient with renal involvement had long narrow thorax and severe Brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe Brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family.

  • Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Beyhan Tüysüz, Safa Bariş, Figen Aksoy, Riza Madazli, Savaş Ungür, Lale Sever
    Abstract:

    Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell-shaped or long narrow short thorax and Brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell-shaped thorax and mild Brachydactyly, the one patient with renal involvement had long narrow thorax and severe Brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe Brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family. © 2009 Wiley-Liss, Inc.

  • Short trunk stature, Brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    American Journal of Medical Genetics Part A, 2003
    Co-Authors: Beyhan Tüysüz, Savaş Ungür
    Abstract:

    We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. She had also Brachydactyly, small nails, strabismus and delay of menarche. Her 16-year-old sister had also short trunk stature with severe kyphoscoliosis, hearing loss, Brachydactyly, platyspondyly and mild precocious calcification of costal cartilages. Their 12-year-old brother had short trunk stature, kyphoscoliosis, Brachydactyly, and platyspondyly but did not show precocious calcification of costal cartilage. The patients shared the following features: short trunk stature, Brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum. In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis. Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type brachyolmia, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, such as elongated vertebral bodies extending beyond the pedicles laterally and all of the patients had Brachydactyly which was not present in Hobaek type brachyolmia. The parents were healthy and first cousins signifying autosomal recessive inheritance. We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.

  • Recessive Robinow syndrome, allelic to dominant Brachydactyly type B, is caused by mutation of ROR2
    Nature genetics, 2000
    Co-Authors: Ali R Afzal, Beyhan Tüysüz, Anna Rajab, Michael A Patton, Christiane Fenske, Victoria Murday, Michael Oldridge, N Elanko, Eliana Ternes-pereira, Andrew O.m. Wilkie
    Abstract:

    The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, Brachydactyly and a dysmorphic facial appearance. We previously mapped the gene mutated in RRS to chromosome 9q22 (ref. 4), a region that overlaps the locus for autosomal dominant Brachydactyly type B (refs 5,6). The recent identification of ROR2, encoding an orphan receptor tyrosine kinase, as the gene mutated in Brachydactyly type B (BDB1; ref. 7) and the mesomelic dwarfing in mice homozygous for a lacZ and/or a neo insertion into Ror2 (refs 8,9) made this gene a candidate for RRS. Here we report homozygous missense mutations in both intracellular and extracellular domains of ROR2 in affected individuals from 3 unrelated consanguineous families, and a nonsense mutation that removes the tyrosine kinase domain and all subsequent 3' regions of the gene in 14 patients from 7 families from Oman. The nature of these mutations suggests that RRS is caused by loss of ROR2 activity. The identification of mutations in three distinct domains (containing Frizzled-like, kringle and tyrosine kinase motifs) indicates that these are all essential for ROR2 function.

Lale Sever - One of the best experts on this subject based on the ideXlab platform.

  • Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
    American journal of medical genetics. Part A, 2009
    Co-Authors: Beyhan Tüysüz, Safa Bariş, Figen Aksoy, Riza Madazli, Savaş Ungür, Lale Sever
    Abstract:

    Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell-shaped or long narrow short thorax and Brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell-shaped thorax and mild Brachydactyly, the one patient with renal involvement had long narrow thorax and severe Brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe Brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family.

  • Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Beyhan Tüysüz, Safa Bariş, Figen Aksoy, Riza Madazli, Savaş Ungür, Lale Sever
    Abstract:

    Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell-shaped or long narrow short thorax and Brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell-shaped thorax and mild Brachydactyly, the one patient with renal involvement had long narrow thorax and severe Brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe Brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family. © 2009 Wiley-Liss, Inc.

Savaş Ungür - One of the best experts on this subject based on the ideXlab platform.

  • Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
    American journal of medical genetics. Part A, 2009
    Co-Authors: Beyhan Tüysüz, Safa Bariş, Figen Aksoy, Riza Madazli, Savaş Ungür, Lale Sever
    Abstract:

    Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell-shaped or long narrow short thorax and Brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell-shaped thorax and mild Brachydactyly, the one patient with renal involvement had long narrow thorax and severe Brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe Brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family.

  • Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Beyhan Tüysüz, Safa Bariş, Figen Aksoy, Riza Madazli, Savaş Ungür, Lale Sever
    Abstract:

    Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell-shaped or long narrow short thorax and Brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell-shaped thorax and mild Brachydactyly, the one patient with renal involvement had long narrow thorax and severe Brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe Brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family. © 2009 Wiley-Liss, Inc.

  • Short trunk stature, Brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    American Journal of Medical Genetics Part A, 2003
    Co-Authors: Beyhan Tüysüz, Savaş Ungür
    Abstract:

    We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. She had also Brachydactyly, small nails, strabismus and delay of menarche. Her 16-year-old sister had also short trunk stature with severe kyphoscoliosis, hearing loss, Brachydactyly, platyspondyly and mild precocious calcification of costal cartilages. Their 12-year-old brother had short trunk stature, kyphoscoliosis, Brachydactyly, and platyspondyly but did not show precocious calcification of costal cartilage. The patients shared the following features: short trunk stature, Brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum. In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis. Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type brachyolmia, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, such as elongated vertebral bodies extending beyond the pedicles laterally and all of the patients had Brachydactyly which was not present in Hobaek type brachyolmia. The parents were healthy and first cousins signifying autosomal recessive inheritance. We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.

Shiro Ikegawa - One of the best experts on this subject based on the ideXlab platform.

  • Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.
    American journal of medical genetics. Part A, 2003
    Co-Authors: Gen Nishimura, Rika Kizu, Yoshimaro Kijima, Kiyoshi Sakai, Yoshiharu Kawaguchi, Tomoatsu Kimura, Isao Matsushita, Shuya Shirahama, Toshiyuki Ikeda, Shiro Ikegawa
    Abstract:

    Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E-like Brachydactyly. These manifestations overlap with those of spondyloperipheral dysplasia (SPD), in which a sporadic case with a mutation of COL2A1 has been reported. We report on three patients (an affected woman and her son and a sporadic case of an affected man) with SED Maroteaux type. The affected adults were severely short along with stubby hands and feet, and one developed myelopathy as a result of thoracolumbar gibbus. The affected child was mildly short at birth, and developed Brachydactyly in early childhood. The radiological hallmarks of these patients included severe platyspondyly with square-shaped vertebral bodies, iliac hypoplasia, epiphyseal hypoplasia of the large joints, and strikingly short metacarpals and phalanges. These radiological findings appeared already apparent in early childhood. SED Maroteaux type was radiologically discriminative from SPD. Brachydactyly was much severe in the former than in the latter, and spondylar dysplasia manifestation was different between both disorders. Mutation screen by polymerase chain reaction-direct sequencing for all exons and their flanking regions of COL2A1 did not reveal any mutations in the three patients.

Arun Kumar - One of the best experts on this subject based on the ideXlab platform.