J Pediatr Genet 2017; 06(02): 118-121
DOI: 10.1055/s-0036-1597931
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Ebtesam M. Abdalla
1   Department of Medical Genetics, King Abdulaziz University, Jeddah, Saudi Arabia
2   Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt
,
Ahmed A. El-Beheiry
3   Department of Diagnostic Radiology, Faculty of Medicine, Alexandria University, Egypt
› Institutsangaben
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Publikationsverlauf

19. September 2016

30. November 2016

Publikationsdatum:
02. Januar 2017 (online)

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.

Funding

None.


 
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