Literature DB >> 1149312

Thin ribs in neonatal myotonic dystrophy.

K Fried, M Pajewski, G Mundel, E Caspi, R Spira.   

Abstract

The recently described thin ribs seen in a neonate suffering from myotonic dystrophy represents a valuable sign for early detection of this condition. Thin ribs were found on chest radiographs of two siblings a short time after birth. This led in retrospect to the diagnosis of neonatal myotonic dystrophy. The diagnosis was confirmed by clinical and electromyographic data of myotonic dystrophy in the mother who was not previously known to have the disease. Both children died at the age of 2 days from respiratory distress. All children of affected mothers should have a chest radiograph soon after birth in order to help in diagnosis and to establish the frequency of this sign.

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Year:  1975        PMID: 1149312     DOI: 10.1111/j.1399-0004.1975.tb00351.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Genetic risks for children of women with myotonic dystrophy.

Authors:  M C Koch; T Grimm; H G Harley; P S Harper
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Congenital myotonic dystrophy: respiratory function at birth determines survival.

Authors:  M A Rutherford; J Z Heckmatt; V Dubowitz
Journal:  Arch Dis Child       Date:  1989-02       Impact factor: 3.791

3.  Risk estimates for neonatal myotonic dystrophy.

Authors:  A Glånz; F C Fråser
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

4.  Chest.

Authors:  Mukund D Rahalkar; Anand M Rahalkar; Deepa Divekar; Jayashree Yelgaonkar
Journal:  Indian J Radiol Imaging       Date:  2009-02
  4 in total

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