Table 1.

Clinical findings in the patient and possible associations to CDKN1C-related syndromes

Clinical features	BWS (score)	IMAGe (NH-CSS)	New
Polyhydramnios	X (1)
Pre-eclampsia in mother	X
Omphalocele	X (2)
Large tongue	X (2)
Neonatal hypoglycaemia	X (1)
Neonatal apnoea	X
Infraorbital crease	X
Midface retrusion	X
Long and grooved philtrum	X
Nevus flammeus	X (1)
Ear creases	X (1)
Patent ductus arteriosus	X	X
Inguinal hernia	X	X
Cryptorchidism, bilateral	X	X
Small testes		X
Small for gestational age		X (1)
Long gracile diaphysis		X
Broad metaphysis		X
Delayed bone age		X
Bifrontal bossing		X
Low set, posteriorly rotated ears		X
Feeding difficulties		X (1)
Broad nasal bridge and tip		X
Hypotonia		X
Small kidneys		?	X
Thin upper lip			X
Strabismus	?		X
Rib synostosis			X
Developmental delay			X
Microcephaly (postnatal)			X
Relative macrocephaly at birth		X (1)

The number in parentheses are criteria score according to Beckwith-Wiedemann syndrome (BWS) clinical consensus score and Netchine-Harbison Clinical Silver-Russel Syndrome score (NH-CSS).^{6 33}