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Differential Diagnosis For Chorionic Villous Sampling Abnormalities


List of current finding(s):

Metabolic, Storage Disorders
Tay-Sachs disease
Ornithine Transcarbamylase (OTC) defic.
Wolman Disease
Congenital, Developmental Disorders
Adrenogenital syndrome
Alpha-thalasssemia/MR syndrome (Xq13)
Hereditary, Familial, Genetic Disorders
Sickle cell/thalassemia disease
Thalassemia major
Sickle cell anemia
Sickle cell-hemoglobin D disease
Cystic fibrosis (mucoviscidosis)
Duchenne's Muscular Dystrophy/Pseudohypertrophic
Fragile X syndrome/X-linked retardation
Osteogenesis imperfecta
Polycystic kidney disease
Infantile polycystic kidney disease
Thalassemia-hemoglobin C disease
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External Links Related to Chorionic Villous Sampling Abnormalities
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)