J Pediatr Genet 2018; 07(03): 134-137
DOI: 10.1055/s-0038-1636995
DOI: 10.1055/s-0038-1636995
Case Report
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)
Gregory Costain
*
1
Medical Genetics Residency Training Program, University of Toronto, Toronto, Ontario,
Canada
2
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University
of Toronto, Toronto, Ontario, Canada
,
Michal Inbar-Feigenberg
*
2
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University
of Toronto, Toronto, Ontario, Canada
,
Maha Saleh
1
Medical Genetics Residency Training Program, University of Toronto, Toronto, Ontario,
Canada
2
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University
of Toronto, Toronto, Ontario, Canada
,
Shimrit Yaniv-Salem
3
Fetal Medicine Unit, Department of Obstetrics and Gynecology, Mount Sinai Hospital,
University of Toronto, Toronto, Ontario, Canada
,
Greg Ryan
3
Fetal Medicine Unit, Department of Obstetrics and Gynecology, Mount Sinai Hospital,
University of Toronto, Toronto, Ontario, Canada
,
Eric Morgen
4
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University
of Toronto, Toronto, Ontario, Canada
,
Elaine S. Goh
5
Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga,
Ontario, Canada
,
Gen Nishimura
6
Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan
,
David Chitayat
2
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University
of Toronto, Toronto, Ontario, Canada
7
The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University
of Toronto, Toronto, Ontario, Canada
› Author Affiliations