Acrofacial dysostosis suggesting Nager syndrome in newborn – Diagnostic and therapeutic difficulties

Conclusions: Nager syndrome is a rare disease with craniofacial and preaxial limb involvement. The quality of life of patients with Nager syndrome can be improved by an early diagnosis. A proper prenatal screening allows to perform differential diagnosis (from Treacher Collins, Miller, Pierre-Robin sequence and Roberts syndromes) before birth and prepare the parents for the upcoming challenges.
Source: Pediatria Polska - Category: Pediatrics Source Type: research