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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Main Authors: Kitaoka, Taichi, Namba, Noriyuki, Kim, Ji Yoo, Kubota, Takuo, Miura, Kohji, Miyoshi, Yoko, Hirai, Haruhiko, Kogo, Mikihiko, Ozono, Keiichi
Format: Online
Language:English
Published: The Japanese Society for Pediatric Endocrinology 2009
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687608/
id pubmed-3687608
recordtype oai_dc
spelling 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.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building 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/
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