Displasia cleidocraneal: reporte de un caso

Abstract

Introduction: Cleidocraneal dysplasia (CCD) is a rare skeletal autosomal dominant syndrome characterized by dental anomalies and bone abnormalities. These clinical manifestations do not require treatment in most cases. The disease is caused by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6. Objective: To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis. Case report: A 3 year old patient, who was clinically diagnosed with CCD since birth. The patient showed incomplete development of cranial bones, bell-shaped thorax, adequate dentition and presence of clavicles. Molecular analysis reported that the patient is carrying the pathogenic variant c.674G>A in the RUNX2 gene, confirming the diagnosis. Conclusions: The CCD is a rare condition, with special clinical features. It is important to establish early diagnosis in these patients in order to offer a better quality of life, and if necessary, appropriate treatment.

Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

“…Furthermore, Vakili and Jalali 35 reported a case of hypogonadotropic hypogonadism associated with CCD in an adolescent patient. Regarding pediatric case reports, the same clinical signs described in adult patients are generally found 24,25,28,31,36,37 …”

“…The cases described in this study have been added to the few reports made in Colombia regarding this disease 24–28 . For reference, Medina et al 24 and Ortega and Suárez 25 described two pediatric cases of 3 and 6 years old, respectively.…”

“…4,12,23 The cases described in this study have been added to the few reports made in Colombia regarding this disease. [24][25][26][27][28] For reference, Medina et al 24 and Ortega and Suárez 25 described two pediatric cases of 3 and 6 years old, respectively. In both cases, short stature was the reason for medical consultation, and during physical examinations, late closure of fontanelles and some skeletal alterations were the main suspicion of CCD, which was confirmed by subsequent radiological studies and molecular studies in one of the cases.…”

Tratamento cirúrgico de múltiplos cistos dentígeros na maxila em paciente pediátrico

“…Já a Displasia Cleidocraniana é caracterizada por proeminências dos ossos frontais e parietais, braquicefalia, hipoplasia ou ausência da clavícula, e múltiplas anomalias dentais. (Alencar, 2018;Magalhães, et al, 2019;Medina, et al, 2017;Santos, 2019).…”

A case report of cleidocranial dysplasia: A noninvasive approach

“…CCD occurs in about one in 1 000 000 people, with no specific gender predilection 1 . It can be detected from an early age, including during the prenatal period, via ultrasound findings 2,3 …”