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

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.

Keywords

FATCO - Fuhrmann's syndrome - fibular aplasia - tibial campomelia - oligosyndactyly

• References

• 1 Hecht JT, Scott Jr CI. Limb deficiency syndrome in half-sibs. Clin Genet 1981; 20 (6) 432-437
• 2 Bieganski T, Jamsheer A, Sowinska A , et al. Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A 2012; 158A (7) 1542-1550
• 3 Karaman A, Kahveci H. A male newborn infant with FATCO syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report. Genet Couns 2010; 21 (3) 285-288
• 4 Kitaoka T, Namba N, Kim JY , et al. A Japanese male patient with ‘fibular aplasia, tibial campomelia and oligodactyly’: an additional case report. Clin Pediatr Endocrinol 2009; 18 (3) 81-86
• 5 Fuhrmann W, Fuhrmann-Rieger A, de Sousa F. Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs—a new autosomal recessive syndrome. Eur J Pediatr 1980; 133 (2) 123-129
• 6 Lipson AH, Kozlowski K, Barylak A, Marsden W. Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. Am J Med Genet 1991; 41 (2) 176-179
• 7 Woods CG, Stricker S, Seemann P , et al. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet 2006; 79 (2) 402-408
• 8 Courtens W, Jespers A, Harrewijn I, Puylaert D, Vanhoenacker F. Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature. Am J Med Genet A 2005; 134 (3) 321-325
• 9 Ekbote AV, Danda S. A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. Foot Ankle Spec 2012; 5 (1) 37-40
• 10 Goyal N, Kaur R, Gupta M, Bhatty S, Paul R. FATCO syndrome variant—fibular hypoplasia, tibial campomelia and oligosyndactyly—a case report. J Clin Diagn Res 2014; 8 (9) LD01-LD02
• 11 Bastaki LA, Al-Hathal M, Sadik DI, Alrohaif HE, Yousef HY, Khallaf MG. A case report of FATCO syndrome: fibular aplasia, tibial campomelia, and oligosyndactyly. Middle East J Med Genet 2015; 4 (1) 28-30
• 12 Evans JA, Reed MH, Greenberg CR. Fibular aplasia with ectrodactyly. Am J Med Genet 2002; 113 (1) 52-58
• 13 Sezer O, Gebesoglu I, Yuan B, Karaca E, Gokce E, Gunes S. Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up. Clin Dysmorphol 2014; 23 (4) 121-126
• 14 Kumar D, Duggan MB, Mueller RF, Karbani G. 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. Am J Med Genet 1997; 70 (2) 107-113