Table 3

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

PatientMaternal parityGenderRace, ethnicityCountry of birthPrenatal diagnosis of hydropsWeeks gestation at delivery or terminationPatient age at publicationCongenital abnormalities or most current symptomsRecovered from hydrops?
1G4, P2FemaleHispanicArgentinaUnknownUnknownDeceased—prenatal onsetAscites, affected kidneys, haematised  facies, brain ventriculomegaly, hepatosplenomegaly, respiratory failureUnknown
2G5, P2MaleHispanicArgentina33 weeksUnknownDeceased—prenatal onsetAscites at 33 weeks, renal damageUnknown
3G6, P2FemaleHispanicArgentina35 weeksUnknownDeceased—prenatal onsetAscites at 35 weeks, hepatosplenomegaly and vacuolated macrophages, hepatocytes and renal tubulesUnknown
4UnknownMaleUnknownGermanyUnknownUnknownDeceased—prenatal onsetUmbilical hernia, macrocephaly, cardiac valve pathologyUnknown
5UnknownUnknownUnknownGermanyUnknownUnknownDeceased—prenatal onsetUnknown
6UnknownUnknownUnknownGermanyUnknownUnknownDeceased—prenatal onsetUnknown
7UnknownUnknownUnknownGermanyUnknownUnknownDeceased—prenatal onsetUnknown
8UnknownUnknownUnknownGermanyUnknownUnknownDeceased—prenatal onsetUnknown
9UnknownUnknownUnknownGermanyUnknownUnknownDeceased—prenatal onsetUnknown
10UnknownUnknownUnknownGermanyUnknownUnknownDeceased—prenatal onsetUnknown
11UnknownFemaleUnknownGermanyUnknownUnknownUnknownInguinal hernia, coarse facial features, mental retardation, dysostosis multiplex, hepatosplenomegaly, cardiac valve pathology, hearing loss, recurrent otitis mediaYes
12G1, P1MaleHispanicUSAUnknown38 weeksDeceased at 11 years of ageCoarse 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 deteriorationYes
13G2, P2MaleCaucasianUSAUnknownUnknown5 monthsMacrocephaly, 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 retardationYes
14*G1MaleCaucasianTurkeyUnknownUnknownDeceased at 2 years of ageMicrognathia, 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 vocabularyYes
15*UnknownFemaleHispanicBrazilUnknownUnknown2 years 10 monthsOedema at birth, hepatosplenomegalyYes
16G1, P1FemaleHispanicBrazilUnknownUnknown7 years 2 monthsHepatosplenomegaly, 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 talkYes
17*UnknownFemaleHispanicBrazilUnknownUnknown5 years 2 monthsMacrocephaly, coarse facial features, cognitive decline, type II diabetesYes
18UnknownFemaleHispanicBrazilUnknownUnknownDeceasedAt 4 years 3 months presented with joint stiffness, hepatosplenomegaly, corneal clouding, coarse facial features, mental retardation, cholestasis, obstructive respiratory diseaseYes
19G2, P2MaleAsianJapanUnknownUnknown22 yearsAt 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 vocabularyYes
20UnknownMaleAfrican-AmericanUSA19 weeks36 weeksUnknownAt birth, hearing loss, coarse facial features, liver dysfunction, decreased pulmonary function, small lung volume, hypotension, thrombocytopenia, coronary dilation, joint contractures in wrists and shouldersYes
21UnknownMaleHispanicArgentina32 weeksUnknownDeceasedPresented with hydrocele, hydrothorax, severe ascites, petechiae in abdomen, hepatomegaly, renal insufficiency, respiratory failureNo
22G1, P1MaleCaucasianSpain22 weeks33 weeks15 yearsBMT Patient 4 description (table 4)Yes
23G0FemaleCaucasianUSAIn uteroUnknown15 monthsBMT Patient 5 description (table 4)Yes
  • *Consanguinity.

  • BMT, bone marrow transplantation; MPS VII, mucopolysaccharidosis VII.