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

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 b...

Descripción completa

Detalles Bibliográficos
Autores principales: Busaleh, Fadi, Alnofaily, Haider, Al Ghadeer, Hussain A, Albahrani, Fatimah A, Alatiyyah, Hibah A, Alshaikh, Salwa B, Alhamrani, Ahmed M, Hassan, Walaa, Alatiya, Jumanah, Alnaqaa, Jawad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697530/
https://www.ncbi.nlm.nih.gov/pubmed/34963845
http://dx.doi.org/10.7759/cureus.19829
Descripción
Sumario: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.

Ejemplares similares