A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report
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 an...
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The Japanese Society for Pediatric Endocrinology
2009
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pubmed-36876082013-08-07 A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report Kitaoka, Taichi Namba, Noriyuki Kim, Ji Yoo Kubota, Takuo Miura, Kohji Miyoshi, Yoko Hirai, Haruhiko Kogo, Mikihiko Ozono, Keiichi Case Report 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. The Japanese Society for Pediatric Endocrinology 2009-08-01 2009-07 /pmc/articles/PMC3687608/ /pubmed/23926365 http://dx.doi.org/10.1297/cpe.18.81 Text en 2009©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. |
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Open Access Journal |
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Foreign Institution |
institution |
US National Center for Biotechnology Information |
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NCBI PubMed |
collection |
Online Access |
language |
English |
format |
Online |
author |
Kitaoka, Taichi Namba, Noriyuki Kim, Ji Yoo Kubota, Takuo Miura, Kohji Miyoshi, Yoko Hirai, Haruhiko Kogo, Mikihiko Ozono, Keiichi |
spellingShingle |
Kitaoka, Taichi Namba, Noriyuki Kim, Ji Yoo Kubota, Takuo Miura, Kohji Miyoshi, Yoko Hirai, Haruhiko Kogo, Mikihiko Ozono, Keiichi A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report |
author_facet |
Kitaoka, Taichi Namba, Noriyuki Kim, Ji Yoo Kubota, Takuo Miura, Kohji Miyoshi, Yoko Hirai, Haruhiko Kogo, Mikihiko Ozono, Keiichi |
author_sort |
Kitaoka, Taichi |
title |
A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report |
title_short |
A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report |
title_full |
A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report |
title_fullStr |
A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report |
title_full_unstemmed |
A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report |
title_sort |
japanese male patient with ‘fibular aplasia, tibial campomelia and oligodactyly’: an additional case report |
description |
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. |
publisher |
The Japanese Society for Pediatric Endocrinology |
publishDate |
2009 |
url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687608/ |
_version_ |
1611987854684061696 |