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

Autor: Busaleh F; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., Alnofaily H; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., Al Ghadeer HA; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., Albahrani FA; College of Medicine, King Faisal University, Al-Ahsa, SAU., Alatiyyah HA; College of Medicine, King Faisal University, Al-Ahsa, SAU., Alshaikh SB; Family Medicine, King Faisal University, Al-Ahsa, SAU., Alhamrani AM; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., Hassan W; Pediatrics Department, Saudi Ministry of Health, Al-Ahsa, SAU., Alatiya J; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., Alnaqaa J; Surgery, Al Kharj Military Industries Corporation Hospital, Al Kharj, SAU.
Jazyk: angličtina
Zdroj: Cureus [Cureus] 2021 Nov 23; Vol. 13 (11), pp. e19829. Date of Electronic Publication: 2021 Nov 23 (Print Publication: 2021).
DOI: 10.7759/cureus.19829
Abstrakt: 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.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2021, Busaleh et al.)
Databáze: MEDLINE