Segovia-Ortí Raquel, Espinosa de Los Monteros Aliaga Cano Natalia, Lumbreras Javier, Sotto-Esteban Diego de, Rodrigo María Dolores
Department of Pediatrics Endocrinology, Son Espases University Hospital, Mallorca, Spain.
Department of Pediatrics Nephrology, Son Espases University Hospital, Mallorca, Spain.
J Pediatr Genet. 2020 Sep 7;11(2):158-161. doi: 10.1055/s-0040-1716399. eCollection 2022 Jun.
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a genetic syndrome. Its main characteristics are bony dysplasia, prenatal and postnatal growth deficiencies, microcephaly, and cerebrovascular disease. Several other features have been added recently. We report an individual with MOPDII affected by congenital renal dysplasia and hyperosmolar coma diabetic onset. Renal dysplasia has not been previously described in individuals with MOPDII. By publishing cases of unusual genetic disorders, it will be possible to broaden the spectrum of these rare syndromes, and improve the diagnosis and management of comorbidities.
II型小头畸形骨发育不良原发性侏儒症（MOPDII）是一种遗传综合征。其主要特征为骨发育异常、产前和产后生长缺陷、小头畸形以及脑血管疾病。最近又增加了其他一些特征。我们报告了一名患有MOPDII的个体，其患有先天性肾发育不良和糖尿病性高渗性昏迷。此前尚未在MOPDII患者中描述过肾发育不良。通过公布罕见遗传疾病的病例，有可能拓宽这些罕见综合征的范围，并改善合并症的诊断和管理。
