Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

Raquel Segovia-Ortí; Natalia Espinosa de los Monteros Aliaga Cano; Javier LumbrerasDiego de Sotto-EstebanMaría Dolores Rodrigo

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Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

机译：Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

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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.

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《Journal of pediatric genetics》 |2022年第2期|158-161|共4页
作者
Raquel Segovia-Ortí; Natalia Espinosa de los Monteros Aliaga Cano; Javier LumbrerasDiego de Sotto-EstebanMaría Dolores Rodrigo;
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Department of Pediatrics Endocrinology, Son Espases University Hospital, Mallorca, Spain;

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正文语种英语
中图分类儿科学;
关键词
microcephalic osteodysplastic primordial dwarfism type II; nephrology; diabetes;

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

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