A case report on Wolf-Hirschhorn syndrome

Naveen Kumar; Sapna Berry

doi:10.18203/2349-3291.ijcp20211092

Authors

Naveen Kumar Department of Paediatrics IGMC Shimla, Himachal Pradesh, India
Sapna Berry Department of Obstetrics and Gynaecology Dr. RPGMC Tanda, Kangra, Himachal Pradesh, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20211092

Keywords:

Wolf-Hirschhorn syndrome, Microcephaly, Micrognathia

Abstract

Wolf-Hirschhorn syndrome is a genetic condition that affects many systems of the human body. It is caused by a deletion of the band 4p16.3 and this deletion may be sub microscopic. Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. A familial translocation is seen in 5-13% of the patients. Other patients have de novo deletions, usually on the paternal chromosome 4, or de novo translocations in 1.6%. Prenatal diagnosis is possible. We are hereby reporting a case of 9 months old infant who showed delayed physical and neurocognitive development and a characteristic appearance, which led to the diagnosis of this genetic disease.

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