ESPE Abstracts

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,000,000, it manifests equally in men and women, with 20-30% of cases being sporadic. The main alterations found in CCD are enlarged fontanelles, brachycephaly, diastasis of the metopic suture, prominent forehead, and clavicular hypoplasia, resulting in narrow shoulders. Despite there being alterations in stature, such as reduced final height, GH deficiency associated with CCD is rare. Dental anomalies, such as supernumerary teeth and delayed eruption of permanent teeth, are common and the primary cause of morbidity. The diagnosis is based on clinical and radiological findings and can be confirmed by the detection of mutations in RUNX2. In the reported case, we describe the case of patient, male, aged 6 years, who presented clinical signs at birth, such as clavicular aplasia, macrocephaly, frontal and parietal prominence, depressed nasal bridge, and low-set ears. Radiographs showed bilateral absence of clavicles and epiphyseal dysplasias. At 4 years old, the patient showed unsatisfactory growth, with a growth rate of 3.6 cm per year. Laboratory tests and magnetic resonance imaging revealed no abnormalities, but growth hormone (GH) therapy was initiated due to the low growth rate. At his last clinical evaluation, patient’s growth rate, even with a relatively low dose of GH (0.08U/kg/day), was quite adequate, estimated at 6.9 cm per year, indicating a positive therapeutic test with a good clinical and auxological response. The described case illustrates a presentation that, although not commonly reported in the literature (GH deficiency), should be considered in the presence of evident growth deceleration with no other identifiable causes, as these individuals have normal cognitive and intellectual development, a good prognosis in terms of life expectancy similar to the general population, and adequate growth will certainly contribute to a good quality of life.