ABSTRACT
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results. The mother had a milder phenotype with less prominent craniofacial defects that did not require surgical correction. The older brother required a 2-jaw surgery whereas the younger brother required a surgically assisted rapid palatal expansion. In the second series of operations, both brothers underwent scraping of their prominent supraorbital ridge. They have been free of complications throughout their 16-year follow-up. The authors also screened the family for possible genetic etiologies and identified mutations in the causative gene of OPD1 on Xq28 in all 3 patients. In conclusion, the authors have identified 3 patients with OPD1, performed surgical treatments on the affected brothers and have obtained good reconstructive results. There are no reports involving OPD1 patients who have received good surgical treatment. With careful examination and identification of patients with characteristic facies and skeletal abnormalities, it is our opinion that the authors can help more patients with this disease through surgical management.
