Pierre Robin sequenceを伴った1型耳・口蓋・指症候群の兄弟例

抄録

Oto-palato-digital syndrome (OPD syndrome) is a rare but well-defined disorder first described by Taybi in 1962. It is characterized by skeletal dysplasia of the hands and feet, hearing loss, and cleft palate. We report two cases of OPD syndrome type 1 with Pierre Robin sequence. The patients were brothers, and their signs and symptoms were similar. They had U-shaped cleft palate, micrognathia, anomalies of the hands and feet, and a characteristic facial appearance. Their mother and their mother's grandmother had similar facial characteristics, and their mother's brother had cleft palate and deformities of the hands and feet.
The patients had airway problems in the neonatal period, but airway distress improved with growth. At the age of 1 year, we performed palatoplasty. Neither patient has deafness or mental retardation. Their speech is normal, with good velar mobility.
The elder brother had bronchostenosis caused by a vascular ring. The right aortic arch was therefore divided at the age of 3 years.