一名沙特女孩患伴有葡萄糖-6-磷酸脱氢酶缺乏症的II型小头畸形骨发育不良原发性侏儒症。
Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl.
作者信息
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
机构信息
Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU.
College of Medicine, King Faisal University, Al-Ahsa, SAU.
出版信息
Cureus. 2021 Nov 23;13(11):e19829. doi: 10.7759/cureus.19829. eCollection 2021 Nov.
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.
小头畸形原发性侏儒症是一组导致生长受限和多种疾病的病症。该病症分为三类，其中II型小头畸形骨发育不良原发性侏儒症（MOPDII）最为常见。在全球范围内，仅报告了少数病例，文献中仅有关于这些病症的现有信息描述。在本病例报告中，我们展示了一名患有MOPDII并伴有葡萄糖-6-磷酸脱氢酶缺乏性溶血性贫血的沙特阿拉伯婴儿的临床发现。
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