Literature DB >> 15194956

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

Pradeep C Vasudevan1, Helen Stewart.   

Abstract

We report on a child with Fryns syndrome who showed a characteristic coarse hirsute facial appearance, bilateral cleft lip and palate, cardiac and renal anomalies, dilated bowel and distal limb abnormalities. However, diaphragmatic hernia, which is considered a cardinal feature in this condition, was absent in our patient. The parents were consanguineous supporting autosomal recessive inheritance.

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Year:  2004        PMID: 15194956     DOI: 10.1097/01.mcd.0000115198.90437.02

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

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

Authors:  Nikunj Nandan; V Shankar Raman; Santosh Dey; Deepak Dwivedi
Journal:  Med J Armed Forces India       Date:  2020-01-08
  1 in total

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