Table 2

Clinical features in 13 patients with germline CDKN1C coding sequence mutations

PatientSourceOvergrowthAbdominal wall defectMacroglossiaMinor features
S1Current paper+Umbilical hernia+Ear lobe abnormalities, naevus flammeus, hypoglycaemia
S2Current paper+ExomphalosEar lobe abnormalities, hypoglycaemia, organomegaly
F1Current paper+Exomphalos+Ear lobe abnormalities, naevus flammeus
F2aCurrent paper++Ear lobe abnormalities, naevus flammeus, organomegaly
F2bCurrent paper+Exomphalos+Ear lobe abnormalities
F3aCurrent paper+Exomphalos+Ear lobe abnormalities, hypoglycaemia, prune belly syndrome
F3bCurrent paper+Exomphalos+Ear lobe abnormalities
F3cCurrent paperExomphalos+Ear lobe abnormalities
H1Hatada et al 31 +Exomphalos+Ear lobe abnormalities, naevus flammeus, hypoglycaemia
H2Hatadaet al 31 +Exomphalos+Ear lobe abnormalities, naevus flammeus, hypoglycaemia
H3aHatadaet al 32 +Exomphalos+Ear lobe abnormalities, naevus flammeus, organomegaly
H3bHatadaet al 32 +Exomphalos+Ear lobe abnormalities, mental retardation
H4Hatadaet al 32 +Exomphalos+Ear lobe abnormalities, organomegaly