Extremely rare case report of CEBALID syndrome presenting as congenital arthrogryposis

CEBALID syndrome (Craniofacial defects, dysmorphic Ears, Brain Abnormalities, Language delay, and Intellectual Disability) is caused by C-terminal truncated transcriptional activator MN1. This novel syndrome characterized by neurodevelopmental delay, craniofacial anomalies, and partial rhombencephalosynapsis was recently identified in 2020. Since then, less than 30 cases have been reported worldwide. None of the reported cases described an association of arthrogryposis with CEBALID syndrome. Below we present the first reported case in Lebanon with an associated arthrogryposis at birth. A case of a late preterm newborn girl admitted to the neonatal intensive care unit for multiple joint contractures and facial dysmorphology. In addition, the patient had poor extra-uterine cardiopulmonary adaptation that required mechanical ventilation, and feeding difficulties were noted with hypotonicity. The maternal history revealed two prior abortions. Brain magnetic resonance imaging (MRI) was done for the newborn and revealed polymicrogyri, agenesis of the genu of the corpus callosum and rhombencephalosynapsis. Whole exome sequencing confirmed the diagnosis of CEBALID syndrome which was the underlying cause of the complex of malformations, with novel presentation as arthrogryposis. Genetic counselling was recommended for the parents for future pregnancies and supportive medical care was given to the patient. Multiple congenital anomalies, along with repetitive abortions that were present in the maternal history, suggested the presence of genetic background. Multi-disciplinary approach is very important in cases with complex malformations and whole exome sequencing helped establish the diagnosis. Rarity of the case led to absence of clear guidelines in management which made supportive treatment the best approach available.