BP : Systolic >or = 160 Diastolic >or=110 4 hrs apart on 2 occasions Serum Cr: >1.1 mg/dL Pulmonary edema Elevated transa...
Beckwith-Wiedemann syndrome
Alteration of chromosome 11p15 Findings: Macrosomia , rapid growth till late childhood Macroglossia Hemihyperplasia Medial umbilical wall d...
Gaucher disease
Glucocerebrosidase deficiency( Glucocerebroside accumulation) Autosomal recessive Features: Anemia Thrombocytopenia Hepatosplenomegaly Ase...
Tay Sachs disease
Beta-hexosaminindase A deficiency Autosomal recessive Common among Ashkenazi Jewish heritage Age of onset around 2-6 months Characteristi...
Niemann-pick disease
Sphingomyelinase deficiency Autosomal recessive Common among Ashkenazi Jewish heritage Age of onset around 2-6 months Characteristic find...
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