A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant | [Journal of Pakistan Medical Association • 2022]

Author(s):

1. Hina Mumtaz Hashmi: Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi,Pakistan

2. Nazia Shamim: Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi,Pakistan

3. Vinod Kumar: Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi,Pakistan

4. Adnan Mirza: Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi,Pakistan

5. Salman Kirmani: Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi,Pakistan

6. Babar Irfan: Department of Medicine, Jinnah Postgraduate Medical Centre,Karachi,Pakistan

7. Hania Hasan: Department of Medicine, Civil Hospital,Karachi,Pakistan

Abstract:

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare, genetic, congenital limb malformation characterised by unilateral or bilateral fibular aplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. A newborn male born at term via a Caesarean Section presented with malformations consisting of tibial campomelia, unilateral fibular hypoplasia, and oligosyndactyly, a "FATCO variant" case. On radiographic examination, an anterolateral shortened and bowed right lower limb at the distal third of the tibia, a rudimentary right fibula and absence of three rays on right foot were revealed. "FATCO syndrome" although rare may be linked to involvement of different body systems with morbidity and mortality. Proper parent counseling is a key aspect of this syndrome. Timely diagnosis and management with a multidisciplinary approach is essential to avoid lifelong disability, which can be a hurdle in a developing country.

Page(s): 975-977

DOI: 10.47391/JPMA.3793

Published: Journal: Journal of Pakistan Medical Association, Volume: 72, Issue: 5, Year: 2022

Keywords:

Tibial Campomelia , Fibular Hypoplasia , FATCO , Oligosyndactyly

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