Complex presentation of neonatal arthrogryposis multiplex congenita: insights into a multifactorial disorder

This case report details a neonate diagnosed with arthrogryposis multiplex congenita (AMC), specifically the amyoplasia subtype, presenting with bilateral talipes equinovarus, elbow contractures, ulnar deviation of the wrists and clinodactyly. Additional clinical findings included mild developmental dysplasia of the hips and a small atrial septal defect. Genetic analysis revealed heterozygous variants of uncertain significance in the SYNE1 and CHD4 genes, both of which were inherited from asymptomatic parents. While SYNE1 is associated with autosomal recessive AMC type 3 and CHD4 with Sifrim-Hitz-Weiss syndrome, the contribution of these genes to this patient's phenotype remains unclear. This case underscores the diagnostic complexities of AMC and highlights the necessity for further genetic investigations and long-term follow-up to clarify genotype-phenotype correlations.