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: |
medicine.medical_specialty
dwarfism intrauterine growth restriction business.industry media_common.quotation_subject General Engineering Endocrinology/Diabetes/Metabolism medicine.disease Osteodysplastic Primordial Dwarfism Type Ii microcephalic osteodysplastic primordial dwarfism type 2 Pediatrics Endocrinology glucose-6-phosphate dehydrogenase deficiency Internal medicine medicine Genetics Girl microcephaly business Glucose-6-phosphate dehydrogenase deficiency media_common |
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 |
Externí odkaz: |