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

Autor: Hussain A. Al Ghadeer, Jumanah Alatiya, Fatimah A. Albahrani, Ahmed M. Alhamrani, Fadi Busaleh, Walaa Hassan, Hibah A. Alatiyyah, Haider Alnofaily, Jawad H Alnaqaa, Salwa B. Alshaikh
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Cureus
ISSN: 2168-8184
Popis: 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.
Databáze: OpenAIRE