Literature DB >> 16877861

Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.

Rajoo Thapa1, Shanto Pramanik, Maya Mukhopadhyay, Apurba Ghosh.   

Abstract

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.

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Year:  2006        PMID: 16877861     DOI: 10.1007/bf02759932

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  1 in total

1.  Prenatal ultrasound diagnosis of Nager syndrome.

Authors:  D Paladini; A Tartaglione; A Lamberti; C Lapadula; P Martinelli
Journal:  Ultrasound Obstet Gynecol       Date:  2003-02       Impact factor: 7.299

  1 in total
  2 in total

1.  Dental Management of a Patient with Nager Acrofacial Dysostosis.

Authors:  R Bozatlıoğlu; A P Münevveroğlu
Journal:  Case Rep Dent       Date:  2015-10-07

2.  Limbal dermoid in Nager acrofacial dysostosis: a rare case report.

Authors:  Rohit Malik; Sumit Goel; Saurabh Aggarwal
Journal:  Indian J Ophthalmol       Date:  2014-03       Impact factor: 1.848

  2 in total

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