The Bat Child

Abstract

Case Report A short stature 10 year old boy with pes planus, mild hearing loss, failure of exfoliation of the primary dentition, anterior hyperdontia, malocclusion and open anterior fontanelle was observed in Pediatric Orthopedics consultation, and presenting the following alterations (image). Discussion This child has cleidocranial dysplasia (CCD). Is an autosomal dominant disease caused by an heterozygous loss-of-function mutation in the RUNX2 gene, encoding transcription factor CBFA1, on chromosome 6p21, which plays an important role in osteogenesis and differentiation of osteoblasts. The main clinical features include persistently open skull sutures, hypoplasia or aplasia of the clavicles permitting abnormal facility in opposing the shoulders, short middle phalanx of the fifth fingers, dental anomalies (supernumerary teeth, failure of exfoliation of the primary dentition and malocclusion), pes planus, upper respiratory complications, recurrent otitis media, hearing loss and often vertebral malformation (scoliosis). Conclusion The clinical diagnosis of CCD was made during pregnancy, through the detection of aplasia of the clavicles in fetu, in association with the mother having short stature (1.32 meters), persistence of primary teeth and open anterior fontanelle. With 10 years of age, he underwent mendilioma study which revealed the mutation in the RUNX2 gene (c. 747 del (p.(Arg251 Alafs*7))) classified as a pathogenic variant.