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Case Reports in Genetics
Volume 2017 (2017), Article ID 4364216, 3 pages
Case Report

A Newborn with Panhypopituitarism and Seizures

1Department of Pediatrics, Saint Anthony Hospital, Chicago, IL, USA
2Department of Neurology, Medical College of Wisconsin, Milwaukee, WI, USA

Correspondence should be addressed to Trupti Kale

Received 18 December 2016; Accepted 17 January 2017; Published 1 February 2017

Academic Editor: Philip D. Cotter

Copyright © 2017 Trupti Kale et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population.