Case Report

A Newborn with Panhypopituitarism and Seizures

Table 1

Clinical features in patients with panhypopituitarism and interstitial deletions of 20p11 overlapping regions.

Characteristic traitsPresent studyWilliams et al., 2011 [5]Garcia-Heras et al., 2005 [6]Kamath et al., 2009 [4], case # 20

Chromosomal deletion20p11.21p12.120p11.21p11.2320p11.1p1220p11.1p12.2
GenderFemaleFemaleMaleMale
Panhypopituitarism++++
Cognitive delay++ NS+
Congenital heart disease++
Gastrointestinal system anomalies + +NS
Genitourinary system anomalies+ NS +
Hypoglycemia+NS +NS
Abnormal brain imaging study+++ +
Seizures++NSNS
Flat nasal bridge++ +
Cleft lip/palate+ NS
Retrognathia+ + NS
Low set ears++ NS NS
Preauricular pits+ + NS
Vertebral defects+

NS: not specified.