# Arthrogryposis Multiplex Congenita Discovered at Birth: A Case Report

## TL;DR

This case report describes a newborn diagnosed with arthrogryposis multiplex congenita, a rare condition causing joint deformities at birth, with a focus on clinical presentation and management.

## Contribution

The paper presents a novel clinical case of AMC with detailed neonatal presentation and management approach.

## Key findings

- The newborn exhibited multiple joint contractures, respiratory distress, and required NICU admission.
- Management of AMC remains palliative, focusing on rehabilitation and orthotic support.
- The case highlights the importance of karyotype analysis in diagnosing potential genetic causes.

## Abstract

Arthrogryposis multiplex congenita (AMC) is a rare condition characterized by multiple joint contractures present at birth. It results from fetal akinesia, which disrupts joint development and is accompanied by muscle weakness and fibrosis. Its etiology is heterogeneous.

We report the case of a female newborn. The mother, a 27-year-old woman (G2P2) with no significant medical history, carried the pregnancy to term with a cephalic fetal presentation. Delivery, performed via cesarean section, resulted in a neonate in a state of apparent stillbirth, requiring resuscitation measures. The Apgar scores were 5 at five minutes and 8 at 10 minutes.

The newborn was admitted to the neonatal intensive care unit (NICU) for the management of a polymalformative syndrome associated with neonatal respiratory distress, leading to the suspicion of arthrogryposis. This prompted a karyotype analysis to investigate possible genetic mutations. Unfortunately, the clinical course was fatal.

AMC typically presents with deformities affecting all four limbs, including muscle hypotrophy, radial deviation of the wrists, bilateral hip dislocation, flexion contractures of the knees, and calcaneovalgus foot deformity. Additionally, affected infants may exhibit hypotonia, neurological hearing loss, and global developmental delay.

Currently, no specific treatment exists for AMC. Management is palliative, primarily focusing on rehabilitation, orthotic support, and symptomatic care to improve quality of life.