Table 1 Clinical features of patients with congenital disorders of glycosylation presenting with hydrops fetalis.

Sex	De Koning et al11	de Koning et al11	Aronica et al13	Noelle et al14	Patient 1, this study	Patient 2, this study
	M	M	M	F	M	F
Hydrops
Diagnosis	At birth, 32 weeks	Ultrasound, 30 weeks	Ultrasound, 20 weeks	At birth, 40 weeks	Ultrasound, 29 weeks	Ultrasound, 35 weeks
Oedema	+*	+*	++	++	++	++
Ascites	+*	+*	+*	+ (autopsy)	++	+
Pleural effusion	+*	+*	+*	+ (autopsy)	+	−
Pericardial effusion	NS	NS	++	++	++	+
Dysmorphic features
Facial	+	+	+	NS	+	+
Inverted nipples	NS	NS	+	+	+	+
Fat pads	NS	NS	NS	NS	−	+
Peau d'orange	NS	NS	NS	+	−	+
Contractures	NS	NS	+	NS	−	−
Other symptoms
Cardiomyopathy	NS	Dilated	Hypertrophic	Hypertrophic	Hypertrophic	−
Hepatomegaly	NS	+	+	NS	+	−
Hypalbuminaemia	NS	NS	+	NS	+	+
Thrombocytopenia	NS	NS	+*	+	+	+
Anaemia	NS	NS	−*	+	+	+/−
Hyperferritinaemia	NS	NS	NS	+	+	+
Cerebellar atrophy	− (autopsy)	− (autopsy)	+ (autopsy)	+ (autopsy)	− (autopsy)	+ (MRI)
Death	2 days	2 weeks	1 month	8 weeks	7 days	2 months
Mutations	CDG‐Ik	CDG‐Ik	T237R	F157S	c.160_161insG	F157S
			V231M	F119L	F119L	F119L

F, female; M, male; NS, not specified; +, present; −, absent.

*Information from personal communication (see Acknowledgements).