Literature DB >> 28497002

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

Ebtesam M Abdalla1,2, Ahmed A El-Beheiry3.   

Abstract

We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented with isolated abnormalities of the lower limbs comprising bilateral shortening and anterior bowing of the lower limbs at the distal third of the tibia and split foot. Radiographic examination revealed complete absence of both fibulae, anterolateral bowing and shortening of the tibia, bowing of the femora, and absence of several metatarsal and phalangeal bones. The upper limbs were clinically and radiologically normal, and the infant had neither facial dysmorphism nor other associated visceral anomalies. The presented case highlights an extremely rare limb deficiency syndrome, and together with additional case reports, it could be useful to further delineate this condition.

Entities:  

Keywords:  FATCO; Fuhrmann's syndrome; fibular aplasia; oligosyndactyly; tibial campomelia

Year:  2017        PMID: 28497002      PMCID: PMC5423804          DOI: 10.1055/s-0036-1597931

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  13 in total

1.  Three new patients with FATCO: fibular agenesis with ectrodactyly.

Authors:  Tadeusz Bieganski; Aleksander Jamsheer; Anna Sowinska; Dobromila Baranska; Kryspin Niedzielski; Kazimierz Kozlowski; Malwina Czarny-Ratajczak
Journal:  Am J Med Genet A       Date:  2012-05-24       Impact factor: 2.802

Review 2.  Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.

Authors:  A H Lipson; K Kozlowski; A Barylak; W Marsden
Journal:  Am J Med Genet       Date:  1991-11-01

Review 3.  Fibular aplasia with ectrodactyly.

Authors:  Jane A Evans; Martin H Reed; Cheryl R Greenberg
Journal:  Am J Med Genet       Date:  2002-11-15

4.  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

5.  Limb deficiency syndrome in half-sibs.

Authors:  J T Hecht; C I Scott
Journal:  Clin Genet       Date:  1981-12       Impact factor: 4.438

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

8.  Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.

Authors:  D Kumar; M B Duggan; R F Mueller; G Karbani
Journal:  Am J Med Genet       Date:  1997-05-16

9.  Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.

Authors:  W Fuhrmann; A Fuhrmann-Rieger; F de Sousa
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

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.  A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation.

Authors:  Hale Önder Yılmaz; Duran Topak; Orkun Yılmaz; Seda Çakmaklı
Journal:  J Pediatr Genet       Date:  2018-11-18

2.  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.  Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight.

Authors:  Marian K Georgeos; Dina R Elgzzar
Journal:  Cureus       Date:  2022-01-28
  3 in total

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