Introduction
Cleidocranial dysplasia (CCD; OMIM 119600), a rare autosomal dominant bone dysplasia, is characterized by delayed closure of cranial sutures, hypoplastic clavicles, short stature, and dental anomalies. We report on four children with CCD and extreme short stature who were successfully treated with growth hormone (GH) in our clinic. To the best of our knowledge, this is the first report of GH therapy for treatment of short stature in children with CCD.
Patients and results
Four children with CCD (2 boys, 2 prepubertal) were treated with GH. Patients’ characteristics are shown in Table 1. Their average age at initiation of treatment was 10.8±1.96 years, bone age 10 ±1.68, height-SDS (Ht-SDS) was -3.05 ±0.18 and their pretreatment growth velocity 4.2 ±0.42 cm\year. By the end of the first year of treatment their growth velocity improved to 10+1.36 cm\year and their Ht-SDS to -2.2 ±0.35 . GH dose was 0.05 mg/kg/d. Figure 1 illustrates growth curve of one of the patients over a two year period of treatment.
Conclusions
The results suggest that short-term GH therapy is effective for treatment of short stature in children with this rare bone dysplasia. Marked improvement of growth velocity was observed for the 1st year of treatment, similar to that observed in children with GH deficiency and idiopathic short stature. We conclude that GH therapy should be considered in short patients with CCD , and possibly for other bone dysplasias for which it has not previously been considered.
