Literature DB >> 35035054

When Fryn met Edward: Two rare syndromes in a single patient.

Nikunj Nandan1, V Shankar Raman2, Santosh Dey3, Deepak Dwivedi4.   

Abstract

A neonate born at our centre was diagnosed as Fryns Syndrome ie congenital diaphragmatic hernia with facial dysmorphism and distal limb anomalies, which is a rare disorder with only a few hundred cases reported till date.With high clinical index of suspicion and further evaluation, the diagnosis was confirmed. The baby was initially stabilized and later underwent repair of the diaphragmatic hernia. Despite best measures, the baby could not be salvaged. When severe, this can be lethal and diagnosis can only be made after autopsy. However, with early suspicion, better modalities of investigations available and improved NICU care, these babies can be salvaged. We report a case of Fryns Syndrome who was incidentally found to have Edward Syndrome as well. Such an extremely rare combination is yet to be reported in medical literature.Also with updated genetic studies, better diagnostics and treatment options coming up in future, there are chances to improve the survivability of these babies. It is prudent to document all such cases to aid in better understanding of the disease process.
© 2020 Director General, Armed Forces Medical Services. Published by Elsevier, a division of RELX India Pvt. Ltd.

Entities:  

Keywords:  Congenital diaphragmatic hernia; Edward syndrome; Fryns syndrome; Genetic counseling

Year:  2020        PMID: 35035054      PMCID: PMC8737110          DOI: 10.1016/j.mjafi.2019.10.005

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN: 0377-1237


  6 in total

1.  Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

Authors:  J S Bamforth; C O Leonard; B N Chodirker; D Chitayat; H L Gritter; J A Evans; B Keena; T Pantzar; J M Friedman; J G Hall
Journal:  Am J Med Genet       Date:  1989-01

2.  Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.

Authors:  C Cunniff; K L Jones; H M Saal; H J Stern
Journal:  Pediatrics       Date:  1990-04       Impact factor: 7.124

3.  Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.

Authors:  A Slavotinek; S S Lee; R Davis; A Shrit; K A Leppig; J Rhim; K Jasnosz; D Albertson; D Pinkel
Journal:  J Med Genet       Date:  2005-09       Impact factor: 6.318

4.  A case of Fryns syndrome without diaphragmatic hernia and review of the literature.

Authors:  Pradeep C Vasudevan; Helen Stewart
Journal:  Clin Dysmorphol       Date:  2004-07       Impact factor: 0.816

Review 5.  Fryns syndrome: a review of the phenotype and diagnostic guidelines.

Authors:  Anne M Slavotinek
Journal:  Am J Med Genet A       Date:  2004-02-01       Impact factor: 2.802

Review 6.  The trisomy 18 syndrome.

Authors:  Anna Cereda; John C Carey
Journal:  Orphanet J Rare Dis       Date:  2012-10-23       Impact factor: 4.123

  6 in total

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