1. A Japanese Male Patient with Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report
- Author
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Haruhiko Hirai, Keiichi Ozono, Takuo Kubota, Noriyuki Namba, Mikihiko Kogo, Taichi Kitaoka, Kohji Miura, Ji Yoo Kim, and Yoko Miyoshi
- Subjects
cleft palate ,musculoskeletal diseases ,medicine.medical_specialty ,Fatco Syndrome ,business.industry ,Endocrinology, Diabetes and Metabolism ,Radiography ,Right fibula ,tibial campomelia ,FATCO syndrome ,Case Report ,Anatomy ,Fibular aplasia ,Oligodactyly ,Phalanx ,musculoskeletal system ,medicine.disease ,Surgery ,body regions ,Endocrinology ,Male patient ,Pediatrics, Perinatology and Child Health ,medicine ,Tibia ,business - 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.
- Published
- 2009
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