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Robin Abel - One of the best experts on this subject based on the ideXlab platform.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric Pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy. Pediatr Pulmonol. 2009; 44:198–201. © 2009 Wiley-Liss, Inc.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy.

Tim Hall - One of the best experts on this subject based on the ideXlab platform.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric Pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy. Pediatr Pulmonol. 2009; 44:198–201. © 2009 Wiley-Liss, Inc.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy.

Chihping Chen - One of the best experts on this subject based on the ideXlab platform.

  • prenatal diagnosis of asphyxiating thoracic dysplasia Jeune Syndrome
    American Journal of Perinatology, 1996
    Co-Authors: Chihping Chen
    Abstract:

    Asphyxiating thoracic dysplasia (ATD), or Jeune Syndrome, is an uncommon autosomal recessive skeletal disorder characterized by a small thorax, varying degrees of rhizomelic brachymelia, polydactyly, pelvic abnormalities, and renal anomalies. We describe prenatal sonographic examinations in the third trimester of a fetus with abnormal small thorax, short limbs, polyhydramnios, and absence of fetal respiratory movements. At 36 weeks gestation, the fetal biparietal diameter was 93 mm, compatible with 37 weeks; the long-bone lengths measured < 5th percentile; the thoracic circumference (TC) measured 230 mm (< 5th percentile); the abdominal circumference (AC) measured 286 mm (25th percentile), and the TC/AC ratio was 0.80 (lower limit of normal). Our case shows that, although a discrepancy between gestational age and TC is prominent, TC/AC ratio may reach lower limit of normal in cases of fetal ATD, when fetal growth is compromised.

John Fell - One of the best experts on this subject based on the ideXlab platform.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric Pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy. Pediatr Pulmonol. 2009; 44:198–201. © 2009 Wiley-Liss, Inc.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy.

Virpi V. Smith - One of the best experts on this subject based on the ideXlab platform.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric Pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy. Pediatr Pulmonol. 2009; 44:198–201. © 2009 Wiley-Liss, Inc.

  • Ciliopathy spectrum expanded? Jeune Syndrome associated with foregut dysmotility and malrotation.
    Pediatric pulmonology, 2009
    Co-Authors: Tim Hall, John Fell, Virpi V. Smith, Amaka C. Offiah, Andrew Bush, Robin Abel
    Abstract:

    We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy.