Cerebrofaciothoracic Dysplasia

Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic… Expand

Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome… Expand

Summary Cerebrofaciothoracic dysplasia (CFTD) (MIM%213980),also known as Pascual-Castroviejo type I syndrome, is anextremely rare… Expand

To the Editor: Spondylocarpotarsal synostosis (SCT) syndrome (OMIM #272460), also known as congenital synspondylism, is a rare… Expand

We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial… Expand

We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs… Expand