Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation
Published: May 1, 2018 | DOI: https://doi.org/10.7860/JCDR/2018/35736.11530
Deeksha Anand Singla, Anand Singla
1. Senior Resident, Department of Pediatrics, GMC, Patiala, Punjab, India.
2. Senior Resident, Department of Surgery, GMC, Patiala, Punjab, India.
Correspondence Address :
Dr. Anand Singla,
F-6, Tej Bagh Colony, Near Sanauri Adda, Patiala-147001, Punjab, India.
E-mail: anand_singla84@yahoo.co.in
Abstract
Acalvaria, defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. Hypocalvaria is its hypoplastic variant where the skull bones are incompletely formed. Due to such a rare incidence, it has been given the status of an orphan disease. In this report we present the case of a female neonate with acalvaria born in our institute. The neonate survived a short and stormy course of 12 days as she also had associated co-morbidities. The condition per se has been described as having high mortality rate. Very few living cases, less than ten have been reported till date.
Keywords
Absent skull bones, Hypocalvaria, Orphan disease