Dysplazja obojczykowo-czaszkowa u 15-miesięcznego chłopca i 14-letniej dziewczynki : prezentacja kliniczna i obraz radiologiczny

Bibliogr. s. 125

Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia with a relatively mild course. The most characteristic symptoms are clavicle hypoplasia or aplasia, abnormalities in the skull ossification, and a variety of dental pathologies. Case report: The clinical course and radiological presentation of two cases (a 15-month-old boy and a 14-year-old girl) of CCD are presented. Among the characteristic phenotype features the patients demonstrated were abnormalities in the skull formation, with wide sutures and large, delayed closure of the fontanelles, additional Wormian bones, and significant dental abnormalities, in both cases with delayed eruption of teeth and, in the girl, intensive caries, cross bite, and impacted teeth. The boy presented hypoplasia of the clavicles, while aplastic clavicles were confirmed in the girl. In both cases clavicle defects resulted in descended shoulders with abnormal movement faculty. Metacarpal and phalangeal defects were also found in both children as well as abnormalities in pelvic structure, with wide pubic symphysis and vertical arrangement of the pelvic bones in the girl. Conclusions: CCD is a skeletal dysplasia with characteristic clinical and radiological presentation. Although the course of the disorder is relatively mild, early orthopedic, dental, and orthodontic care, as well as rehabilitation, are essential in limiting complications resulting from the congenital malformation of the skeletal system.