Congenital Contractures and Fractures: A Variant of Bruck Syndrome Type 2

TL;DR

This paper reports a rare case of Bruck syndrome Type 2 in an infant with bone fragility and joint deformities.

Contribution

The study presents a new clinical case of Bruck syndrome Type 2 with detailed treatment approaches.

Findings

The infant exhibited multiple joint contractures and a birth-related femur fracture.

Treatment involved physiotherapy, splinting, and serial casting for limb deformities.

The case highlights the clinical features and management of Bruck syndrome Type 2.

Abstract

Bruck syndrome, an exceptionally rare autosomal recessive disorder, manifests as bone fragility and congenital joint contractures. This syndrome is recognized as a fusion of arthrogryposis multiplex congenita and osteogenesis imperfecta and is categorized into Types 1 and 2. Bruck syndrome Type 2 stems from a homozygous mutation in the PLOD2 gene and exhibits characteristics such as osteopenia, congenital contractures with pterygia, femoral bowing, club feet, postnatal shorty stature, severe limb deformity, and progressive scoliosis.

In this report, we describe the case of an infant presenting with multiple joint contractures of the distal extremities, bilateral talipes equinovarus deformity, and a history of a right femur fracture at birth, managed through closed reduction and plaster of Paris. The current treatment regimen includes physiotherapy, wrist splinting for wrist extension and thumb abduction, and serial casting of both lower limbs.

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