Martínez-Sebastián A, Pineda-Caplliure AI

Language: Spanish
References: 3
Page: 130-131
PDF size: 190.59 Kb.

ABSTRACT

We present the radiographic images of a newborn in whom a diagnosis of chondrodysplasia punctata was reached. Patients with this disorder have pinpoint calcifications in multiple joints.

REFERENCES

1. Ochoa GL, Royo PD, Clavero MN, Ferrández LA, García JI, Baldellou VA et al. Condrodisplasia "punctata" rizomélica clásica: comunicación de dos casos con las formas grave y benigna de la afección. Acta Pediatr Esp. 2013; 71(1): e4-e10.

2. Luisman T, Smith T, Ritchie S, Malone KE. Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 2021; 16(1): 300.

3. Stembalska A, Dudarewicz L, Smigiel R. Lethal and life-limiting skeletal dysplasias: selected prenatal issues. Adv Clin Exp Med. 2021; 30(6): 641-647.