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Case Reports
. 2020 Sep 7;11(2):158-161.
doi: 10.1055/s-0040-1716399. eCollection 2022 Jun.

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

Raquel Segovia-Ortí  1 , Natalia Espinosa de Los Monteros Aliaga Cano  2 , Javier Lumbreras  2 , Diego de Sotto-Esteban  3 , María Dolores Rodrigo  2
Affiliations
Case Reports

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

Raquel Segovia-Ortí et al. J Pediatr Genet. .

Abstract

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.

Keywords: diabetes; microcephalic osteodysplastic primordial dwarfism type II; nephrology.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Proband at 7 years of age.
Fig. 2
Fig. 2
Hip X-ray.
See this image and copyright information in PMC

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