Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings

Am J Med Genet A. 2007 Nov 15;143A(22):2706-11. doi: 10.1002/ajmg.a.32007.


In 1992, van den Ende et al. first reported an autosomal recessive multiple congenital anomaly syndrome characterized by blepharophimosis, arachnodactyly, and congenital contractures in a Brazilian girl born to consanguineous parents. Since then, nine total patients have been reported with van den Ende-Gupta syndrome (VDEGS), and the syndrome's phenotype has been found to also include additional dysmorphic facial features, palatal abnormalities, and slender skeletal features. We present two African-American sisters born to nonconsanguineous parents who have been diagnosed with VDEGS. Both sisters developed stridor and were found to have an unusual malformation characterized by large, globular cuneiform cartilages, shortened aryepiglottic folds, a tightly coiled epiglottis, and laryngomalacia. Both patients underwent supraglottoplasty with a successful outcome. A review of the literature reveals that airway problems have been reported in a previous patient. However, no specific airway anomaly has been reported. We suggest that all patients with VDEGS and stridor undergo direct laryngoscopy with consideration for surgical correction.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Craniofacial Abnormalities
  • Female
  • Humans
  • Laryngoscopy
  • Larynx / abnormalities*
  • Musculoskeletal Abnormalities
  • Siblings
  • Syndrome