Two brothers who had oto-palato-digital syndrome type 1 with Pierre Robin sequence

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  • TAKAO Kana
    Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health
  • YOKOTA Yusuke
    Division of Pathogenesis and Dentistry, Osaka University
  • KOHARA Hiroshi
    Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health
  • NISHIO Juntaro
    Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health

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Other Title
  • Pierre Robin sequenceを伴った1型耳・口蓋・指症候群の兄弟例
  • 症例報告 Pierre Robin sequenceを伴った1型耳・口蓋・指症候群の兄弟例
  • ショウレイ ホウコク Pierre Robin sequence オ トモナッタ 1ガタ ミミ コウガイ ユビ ショウコウグン ノ キョウダイレイ

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Abstract

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.<BR>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.<BR>The elder brother had bronchostenosis caused by a vascular ring. The right aortic arch was therefore divided at the age of 3 years.

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