Literature DB >> 25386471

FATCO Syndrome Variant - Fibular Hypoplasia, Tibial Campomelia and Oligosyndactyly -- A Case Report.

Navendu Goyal1, Randeep Kaur2, Manu Gupta3, Shiraz Bhatty4, Rajesh Paul5.   

Abstract

The word aplasia/hypoplasia is used for partial or total absence of a bone. Fibula, a lower limb bone is one of the most common to be involved with this and its incidence is amongst the highest in long bone deficiencies. FATCO syndrome consisting of fibular aplasia, tibial campomelia and oligosyndactyly has been described in the literature but only one has been reported from India as per our literature review. However, it is important to know multiple regional involvement can occur along with this syndrome and prove to be a major difficulty for the child and the parents both. Due to the rarity of reports on this rare syndrome and difficulty in treatment it is important that each such case should be described to make the management easier.

Entities:  

Keywords:  Absent talus; Congenital anomaly; Fibular hemimelia; Oligosyndactyly; Tarsal coalition

Year:  2014        PMID: 25386471      PMCID: PMC4225923          DOI: 10.7860/JCDR/2014/9275.4787

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  11 in total

1.  Prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks of gestation.

Authors:  A Geipel; C Berg; U Germer; M Krokowski; J Smrcek; U Gembruch
Journal:  Ultrasound Obstet Gynecol       Date:  2003-07       Impact factor: 7.299

2.  Response to "Letter: Fibular aplasia, tibial campomelia and oligosyndactyly" by Evans and Elliott.

Authors:  Winnie Courtens; Filip Vanhoenacker
Journal:  Am J Med Genet A       Date:  2006-06-15       Impact factor: 2.802

3.  Treatment of hemimelias of the lower extremity. Long-term results.

Authors:  C H Epps; P L Schneider
Journal:  J Bone Joint Surg Am       Date:  1989-02       Impact factor: 5.284

4.  Amputation or limb-lengthening for partial or total absence of the fibula.

Authors:  I H Choi; S J Kumar; J R Bowen
Journal:  J Bone Joint Surg Am       Date:  1990-10       Impact factor: 5.284

5.  Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Authors:  C G Woods; S Stricker; P Seemann; R Stern; J Cox; E Sherridan; E Roberts; K Springell; S Scott; G Karbani; S M Sharif; C Toomes; J Bond; D Kumar; L Al-Gazali; S Mundlos
Journal:  Am J Hum Genet       Date:  2006-06-23       Impact factor: 11.025

Review 6.  A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.

Authors:  Alka V Ekbote; Sumita Danda
Journal:  Foot Ankle Spec       Date:  2011-09-30

7.  A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report.

Authors:  A Karaman; H Kahveci
Journal:  Genet Couns       Date:  2010

Review 8.  Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature.

Authors:  Winnie Courtens; Ann Jespers; Inge Harrewijn; Dirk Puylaert; Filip Vanhoenacker
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802

Review 9.  Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.

Authors:  Muriel Holder-Espinasse; Louise Devisme; Dominique Thomas; Odile Boute; Pascal Vaast; Damien Fron; Bernard Herbaux; Francis Puech; Sylvie Manouvrier-Hanu
Journal:  Am J Med Genet A       Date:  2004-02-01       Impact factor: 2.802

10.  A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.

Authors:  Taichi Kitaoka; Noriyuki Namba; Ji Yoo Kim; Takuo Kubota; Kohji Miura; Yoko Miyoshi; Haruhiko Hirai; Mikihiko Kogo; Keiichi Ozono
Journal:  Clin Pediatr Endocrinol       Date:  2009-08-01
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  3 in total

1.  Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant.

Authors:  Ebtesam M Abdalla; Ahmed A El-Beheiry
Journal:  J Pediatr Genet       Date:  2017-01-02

2.  A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report.

Authors:  Gitte Smets; Yoeri Vankan; Annick Demeyere
Journal:  J Belg Soc Radiol       Date:  2016-02-26       Impact factor: 1.894

3.  Fibular Hypoplasia, Talar Aplasia, Absent Proximal Tibial Growth Plate and Oligosyndactyly (Variant of Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome) - Paucity of Case Reports with Evolving Definition.

Authors:  Pankaj Kumar Mishra; Maneesh Verma
Journal:  J Orthop Case Rep       Date:  2021-08
  3 in total

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