Alrajhi Hamdan, Alallah Jubara, Shawli Aiman, Alghamdi Khalid, Hakami Fahad
College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Department of Pediatrics, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
BMJ Case Rep. 2019 May 30;12(5):e224197. doi: 10.1136/bcr-2018-224197.
Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the gene.
小头畸形骨发育不良原发性侏儒综合征II型（MOPDII）属于小头畸形原发性侏儒症，是一种极为罕见的身材比例失调的矮小症。这种疾病与其他类型的小头畸形原发性侏儒症具有共同特征，包括严重的产前和产后生长迟缓以及明显的小头畸形。然而，它还包括特征性骨骼发育异常、牙齿异常以及脑血管疾病风险增加。最近的报告补充了更多特征，包括咖啡斑、大理石样皮肤、散光、烟雾病、胰岛素抵抗、肥胖、皮肤色素沉着异常以及颈部黑棘皮病。显然，关于MOPDII的报告越多，就会有更多信息补充到MOPDII特征谱中，从而增进我们对这种疾病的了解。在本文中，我们报告了一例具有更严重临床特征、常见特征发病更早的MOPDII新病例，此外该基因中还存在一个纯合的新变异。
