Harlequin baby- case of birth of a monster baby! - A myth!

Authors

  • Shweta . Department of Obstetrics and Gynecology, MGMCRI, SBV University, Pondicherry, India
  • Neelima Singh Department of Obstetrics and Gynecology, PIMS, Pondicherry, India

Keywords:

Harlequin, Autosomal recessive

Abstract

Harlequin phenotype is inherited as autosomal recessive trait. Disease has been known since 1750, atleast 100 cases have been reported worldwide in modern times. Many cases are sporadic and many others occur in consanguineous families where more than one child is affected. We report a case of harlequin baby born to a mother who had previous two similar babies and two other normal babies.

References

James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.

Kelsell DP, Norgett EE, Unsworth H, et al. (May 2005). Mutations in ABCA12 underlie the severe congenital skin disease harlequin icthyosis. Am. J. Hum. Genet.76 (5):794-80.

Alison Jones (May 9, 2008). Nelly is a real diamond girl. Brimingham post. Retrieved 2008-11-10.

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681-6.

Waring JJ. Early Mention of a Harlequin Fetus in America. Am J Dis Child 1932;43:442.

Downloads

Published

2016-12-10