Open AccessRenal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report
Author(s) -
Raquel SegoviaOrtí,
Natalia Espinosa de los Monteros Aliaga Cano,
Javier Lumbreras,
Diego de Sotto-Esteban,
María Luisa Jiménez Rodrigo
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1716399
Subject(s) - dwarfism , microcephaly , medicine , dysplasia , endocrinology , pediatrics , renal dysplasia , kidney , biology , genetics , gene
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.