A Japanese Male Patient with Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report

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  • Kitaoka Taichi
    Department of Pediatrics, Osaka University Graduate School of Medicine
  • Namba Noriyuki
    Department of Pediatrics, Osaka University Graduate School of Medicine
  • Kim Ji Yoo
    Department of Pediatrics, Suita Municipal Hospital
  • Kubota Takuo
    Department of Pediatrics, Osaka University Graduate School of Medicine
  • Miura Kohji
    Department of Pediatrics, Osaka University Graduate School of Medicine
  • Miyoshi Yoko
    Department of Pediatrics, Osaka University Graduate School of Medicine
  • Hirai Haruhiko
    Department of Pediatrics, Osaka University Graduate School of Medicine
  • Kogo Mikihiko
    First Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry
  • Ozono Keiichi
    Department of Pediatrics, Osaka University Graduate School of Medicine

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Abstract

We report a male infant with FATCO syndrome, an acronym for fibular aplasia, tibial campomelia, and oligosyndactyly. Courtens et al. reported an infant with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. They noted 5 patients with similar clinical features, and proposed the FATCO syndrome. Our patient had a left-sided cleft lip, cleft palate, oligosyndactyly of the right hand and bilateral feet, and bilateral anterior bowing of the limbs associated with overlying skin dimpling. Radiographs showed a short angulated tibia with left fibular aplasia and right fibular hypoplasia. We consider our case the 6th patient with FATCO syndrome, and the cleft lip and palate, not reported in the previous 5 patients, may allow us to further understand the development of the extremities and facies.<br>

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