Literature DB >> 8230167

Airway abnormalities in Jarcho-Levin syndrome: a report of two cases.

M Schulman1, M T Gonzalez, M R Bye.   

Abstract

Two infants with the Jarcho-Levin syndrome of vertebral anomalies underwent flexible fibre optic bronchoscopy. Central airway abnormalities not amenable to surgical correction were found in both patients. These abnormalities may contribute significantly to the respiratory failure seen in affected infants, and should be considered when evaluating continuing medical support.

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Mesh：

Year:  1993        PMID： 8230167      PMCID： PMC1016574          DOI： 10.1136/jmg.30.10.875

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Familial Jarcho-Levin syndrome.

Authors:  M G Romeo; G Distefano; D Di Bella; A Mangiagli; L Caltabiano; S Roccaro; F Mollica
Journal:  Clin Genet       Date:  1991-04       Impact factor: 4.438

2.  Neural defects in Jarcho-Levin syndrome.

Authors:  M G Reyes; A Morales; V Harris; T M Barreta; H Goldbarg
Journal:  J Child Neurol       Date:  1989-01       Impact factor: 1.987

3.  Arnold-Chiari malformation in Jarcho-Levin syndrome.

Authors:  S Young; M G Reyes; I L Uzoaru; V Harris
Journal:  J Child Neurol       Date:  1989-07       Impact factor: 1.987

4.  Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature.

Authors:  A Pérez-Comas; J M García-Castro
Journal:  J Pediatr       Date:  1974-09       Impact factor: 4.406

5.  Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies.

Authors:  M A Poor; O Alberti; N T Griscom; S G Driscoll; L B Holmes
Journal:  J Pediatr       Date:  1983-08       Impact factor: 4.406

6.  Spondylothoracic dysplasia. A report of ten cases with follow-up.

Authors:  H Z Herold; M Edlitz; A Baruchin
Journal:  Spine (Phila Pa 1976)       Date:  1988-05       Impact factor: 3.468

Review 7.  Jarcho-Levin syndrome: four new cases and classification of subtypes.

Authors:  P S Karnes; D Day; S A Berry; M E Pierpont
Journal:  Am J Med Genet       Date:  1991-09-01
  7 in total
  5 in total

1.  Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Authors:  Alberto S Cornier; Karen Staehling-Hampton; Kym M Delventhal; Yumiko Saga; Jean-Francois Caubet; Nobuo Sasaki; Sian Ellard; Elizabeth Young; Norman Ramirez; Simon E Carlo; Jose Torres; John B Emans; Peter D Turnpenny; Olivier Pourquié
Journal:  Am J Hum Genet       Date:  2008-05-15       Impact factor: 11.025

2.  Jarcho-Levin syndrome with association of unilateral pulmonary hypoplasia and diastometamyelia: A case illustration.

Authors:  Subramanyam Padma; Palaniswamy Shanmuga Sundaram
Journal:  Lung India       Date:  2015 Jul-Aug

3.  Anaesthetic management of a patient with Jarcho-Levin syndrome.

Authors:  Neena Jain; Pooja Mathur; Priya Verma; Arvind Khare
Journal:  Indian J Anaesth       Date:  2015-05

4.  Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia.

Authors:  Martí Pons-Odena; Alba Verges; Natalia Arza; Francisco José Cambra
Journal:  BMJ Case Rep       Date:  2017-02-14

5.  A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas.

Authors:  M Cirstoiu; O Munteanu; O Bodean; C Cirstoiu
Journal:  J Med Life       Date:  2013-03-25
  5 in total

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