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Two Siblings With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) Caused by Compound Heterozygous
Ahmed Al Farsi1,2,3, Lina Abdullah3,2, Amr Khalil2
1Pediatrics, NICU, London Health Sciences Centre, London, CAN.
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a rare genetic disorder. This study presents two male siblings with MOPDII, highlighting compound heterozygous inheritance and the need for early diagnosis in severe growth restriction.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a rare genetic disorder.
- Characterized by severe pre- and postnatal growth failure and microcephaly.
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