Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature

BACKGROUND Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. OBJECTIVE To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in… CONTINUE READING