4.1 Article

Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl

Journal

CUREUS JOURNAL OF MEDICAL SCIENCE
Volume 13, Issue 11, Pages -

Publisher

SPRINGERNATURE
DOI: 10.7759/cureus.19829

Keywords

microcephalic osteodysplastic primordial dwarfism type 2; glucose-6-phosphate dehydrogenase deficiency; dwarfism; intrauterine growth restriction; microcephaly

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Microcephalic primordial dwarfism is a group of disorders that lead to growth restriction and multiple morbidities, with MOPDII being the most prevalent subtype. Only a few cases have been reported globally, with information about these disorders only available in literature.
Microcephalic primordial dwarfism is a group of disorders that result in growth restriction and multiple morbidities. The condition is subdivided into three categories, with microcephalic osteodysplastic primordial dwarfism type II (MOPDII) being the most prevalent. Globally, only a few cases have been reported, with only available information about these disorders described in the literature. In this case report, we present the clinical findings seen in an infant with MOPDII in Saudi Arabia with associated glucose-6-phosphate dehydrogenase deficiency hemolytic anemia.

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