Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
Case Report
A Japanese Male Patient with `Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report
Taichi KitaokaNoriyuki NambaJi Yoo KimTakuo KubotaKohji MiuraYoko MiyoshiHaruhiko HiraiMikihiko KogoKeiichi Ozono
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2009 Volume 18 Issue 3 Pages 81-86

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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.

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© 2009 by The Japanese Society for Pediatric Endocrinology
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