Cornelia de Lange Syndrome - a cause of hypertrichosis in children: case report and review of literature

Authors

  • Lamees Mahmood Malik
  • Ghazala Aziz Khan
  • Nadia Ali Azfar
  • Muhammad Jahangir

Keywords:

Cornelia de Lange syndrome, Brachmann de Lange syndrome

Abstract

Cornelia de Lange syndrome is a rare developmental disorder characterized by hypertrichosis, low intelligence, delayed milestones and skeletal and dental abnormalities. Gastroesophageal dysfunction, ophthalmologic, cardiac and genitourinary anomalies, learning difficulties, and mental retardation may be present in severe cases. We report a case of this syndrome who presented for laser treatment for the problem of hypertrichosis, and on examination other features of the syndrome were noted. 

References

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Tonkin E, Wang TJ, Lisgo S et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004; 36: 636-41.

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Published

2016-12-22

How to Cite

1.
Malik LM, Khan GA, Azfar NA, Jahangir M. Cornelia de Lange Syndrome - a cause of hypertrichosis in children: case report and review of literature. J Pak Assoc Dermatol [Internet]. 2016Dec.22 [cited 2024Dec.7];21(3):211-4. Available from: http://www.jpad.com.pk/index.php/jpad/article/view/475

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Section

Case Reports

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