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

Overview

Journal J Orthop Case Rep

Specialty Orthopedics

Date 2022 Jan 10

PMID 35004374

Authors

Pankaj Kumar Mishra

Maneesh Verma

Affiliations

Soon will be listed here.

Abstract

Introduction: Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome is a rare disorder with unknown molecular basis. Since it is a rare disorder, so it is commendable to report the each case, due to its sporadic incidence and paucity of the standardized management protocol for their management.

Case Report: It is a case report of newly born male baby, whose anxious parents presented to the outpatient department with a deformity in the left lower limb. This resembled the FATCO syndrome. After clinico-radiological workup, it was categorized as a variant of FATCO syndrome.

Conclusion: Counseling of parents should be done and let them realize that what is inescapable with this syndrome and what is bound to happen during the treatment.

Citing Articles

A Case of Fibular Aplasia-Tibial Campomelia-Oligosyndactyly (FATCO) Syndrome Associated With Split Hand/Foot Syndrome With Long Bone Deficiency (SHFLD) and Review of the Literature.

Deftereou T, Karapepera V, Alexiadi C, Tologkos S, Papadatou V, Alexiadis G Cureus. 2024; 16(7):e65162.

PMID: 39176338 PMC: 11339580. DOI: 10.7759/cureus.65162.

New pathogenic variant in : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.

Sifre-Ruiz A, Sagasta A, Santos E, Perez de Nanclares G, Heath K Front Genet. 2023; 14:1165780.

PMID: 37124614 PMC: 10133553. DOI: 10.3389/fgene.2023.1165780.

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