Table 3

Patients with MPS VII from the survey with history of neonatal non-immune hydrops fetalis (NIHF)

Patient	Maternal parity	Gender	Race, ethnicity	Country of birth	Prenatal diagnosis of hydrops	Weeks gestation at delivery or termination	Patient age at publication	Congenital abnormalities or most current symptoms	Recovered from hydrops?
1	G4, P2	Female	Hispanic	Argentina	Unknown	Unknown	Deceased—prenatal onset	Ascites, affected kidneys, haematised facies, brain ventriculomegaly, hepatosplenomegaly, respiratory failure	Unknown
2	G5, P2	Male	Hispanic	Argentina	33 weeks	Unknown	Deceased—prenatal onset	Ascites at 33 weeks, renal damage	Unknown
3	G6, P2	Female	Hispanic	Argentina	35 weeks	Unknown	Deceased—prenatal onset	Ascites at 35 weeks, hepatosplenomegaly and vacuolated macrophages, hepatocytes and renal tubules	Unknown
4	Unknown	Male	Unknown	Germany	Unknown	Unknown	Deceased—prenatal onset	Umbilical hernia, macrocephaly, cardiac valve pathology	Unknown
5	Unknown	Unknown	Unknown	Germany	Unknown	Unknown	Deceased—prenatal onset		Unknown
6	Unknown	Unknown	Unknown	Germany	Unknown	Unknown	Deceased—prenatal onset		Unknown
7	Unknown	Unknown	Unknown	Germany	Unknown	Unknown	Deceased—prenatal onset		Unknown
8	Unknown	Unknown	Unknown	Germany	Unknown	Unknown	Deceased—prenatal onset		Unknown
9	Unknown	Unknown	Unknown	Germany	Unknown	Unknown	Deceased—prenatal onset		Unknown
10	Unknown	Unknown	Unknown	Germany	Unknown	Unknown	Deceased—prenatal onset		Unknown
11	Unknown	Female	Unknown	Germany	Unknown	Unknown	Unknown	Inguinal hernia, coarse facial features, mental retardation, dysostosis multiplex, hepatosplenomegaly, cardiac valve pathology, hearing loss, recurrent otitis media	Yes
12	G1, P1	Male	Hispanic	USA	Unknown	38 weeks	Deceased at 11 years of age	Coarse facies, macrocephaly, short neck, coarse hair, corneal clouding, abnormal dentition, macroglossia, inguinal hernia, recurrent otitis media, dysostosis multiplex, cardiomyopathy, obstructive airway disease, chronic bronchitis, narrowed trachea, decreased pulmonary function, hepatosplenomegaly, joint stiffness and contractures, mental retardation, limited vocabulary, progressive neurological deterioration	Yes
13	G2, P2	Male	Caucasian	USA	Unknown	Unknown	5 months	Macrocephaly, coarse facial features, short neck, coarse hair, corneal clouding, visual impairment, recurrent otitis media and hearing loss, chronic rhinorrhoea and snoring, recurrent respiratory infections, dental problems, dysostosis multiplex, hepatosplenomegaly, inguinal hernia, mental retardation	Yes
14*	G1	Male	Caucasian	Turkey	Unknown	Unknown	Deceased at 2 years of age	Micrognathia, hepatosplenomegaly, oedema in hands, feet and scrotum, arteriosus and septum defect, hydrocele in scrotum, hearing loss, hydrocephaly, cervical /spinal canal stenotic; at 2 years of age, macrocephaly, coarse facial features, short neck, corneal clouding, hearing loss, recurrent otitis media, recurrent respiratory infections, macroglossia, inguinal hernia, dysostosis multiplex, joint stiffness, restricted mobility, hydrocephalus, mental retardation, progressive neurological deterioration and limited vocabulary	Yes
15*	Unknown	Female	Hispanic	Brazil	Unknown	Unknown	2 years 10 months	Oedema at birth, hepatosplenomegaly	Yes
16	G1, P1	Female	Hispanic	Brazil	Unknown	Unknown	7 years 2 months	Hepatosplenomegaly, coarse facial features, macrocephaly, enlarged kidney, haemangioma in leg, epicanthic fold, wide nose, macrostomia; at 7 years 2 months, mild breast bone deformation, thick mitral valve, history of asthma, cannot talk	Yes
17*	Unknown	Female	Hispanic	Brazil	Unknown	Unknown	5 years 2 months	Macrocephaly, coarse facial features, cognitive decline, type II diabetes	Yes
18	Unknown	Female	Hispanic	Brazil	Unknown	Unknown	Deceased	At 4 years 3 months presented with joint stiffness, hepatosplenomegaly, corneal clouding, coarse facial features, mental retardation, cholestasis, obstructive respiratory disease	Yes
19	G2, P2	Male	Asian	Japan	Unknown	Unknown	22 years	At 22 years, mental retardation, coarse facial features, macrocephaly, corneal clouding, vision impairment, hearing loss, abnormal dentition, cardiac valve disease, dysostosis multiplex, joint stiffness and contractures, spinal cord compression, curved fingers, restricted mobility, dislocated hips, clawed hands with trigger fingers, progressive neurological deterioration, limited vocabulary	Yes
20	Unknown	Male	African-American	USA	19 weeks	36 weeks	Unknown	At birth, hearing loss, coarse facial features, liver dysfunction, decreased pulmonary function, small lung volume, hypotension, thrombocytopenia, coronary dilation, joint contractures in wrists and shoulders	Yes
21	Unknown	Male	Hispanic	Argentina	32 weeks	Unknown	Deceased	Presented with hydrocele, hydrothorax, severe ascites, petechiae in abdomen, hepatomegaly, renal insufficiency, respiratory failure	No
22	G1, P1	Male	Caucasian	Spain	22 weeks	33 weeks	15 years	BMT Patient 4 description (table 4)	Yes
23	G0	Female	Caucasian	USA	In utero	Unknown	15 months	BMT Patient 5 description (table 4)	Yes

*Consanguinity.
BMT, bone marrow transplantation; MPS VII, mucopolysaccharidosis VII.