TABLE 3.

Previously reported cases of dual diagnoses

Confirmed secondary diagnosis	Classification of secondary diagnosis	Publication
CEDNIK syndrome	Unmasked AR	McDonald-McGinn et al., 2011
Bernard-Soulier syndrome	Unmasked AR	Budarf et al., 1995; Kenny et al., 1999; Nakagawa et al., 2001
Van den Ende-Gupta syndrome	Unmasked AR	Bedeschi et al., 2010
Trisomy 8 mosaicism	Mosaic aneuploidy	McDonald-McGinn et al., 1997
Severe combined immunodeficiency syndrome (rare form known as Artemis deficiency)	Coincidental AR	Heimall et al., 2012
FGFR3 mutation	Heterozygous for pro250arg mutation	Reardon et al., 1997

Abbreviations (AR = autosomal recessive).