Abstract Cerebrofaciothoracic dysplasia (CFT)(OMIM# 213980) is a multiple congenital
anomaly and intellectual disability syndrome involving the cranium, face, and thorax. The …

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development
syndrome-1 (CFSMR1; OMIM# 213980) is a rare autosomal recessive disorder …

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous
influence on human and clinical genetics research. An efficient and cost-effective method …

Lexikon der Syndrome und Fehlbildungen | SpringerLink We’re sorry, something doesn't seem
to be working properly. Please try refreshing the page. If that doesn't work, please contact …

We describe two patients with a cerebrocostomandibular-like syndrome and a novel
mutation in conserved oligomeric Golgi (COG) subunit 1, one of the subunits of the …

We report on a patient with a large septum pellucidum, hypodensity of gray matter,
hypertelorism, and costovertebral anomalies. Only 5 previous cases have been described …

Summary Cerebrofaciothoracic dysplasia (CFTD)(MIM% 213980), also known as Pascual-
Castroviejo type I syndrome, is an extremely rare, although well described, multiple …

We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)
characterized by mental retardation and characteristic facies: narrow forehead, synophris …

We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal
recessive condition with thoracic costovertebral dysplasia, developmental delay and …

Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and
Cobb Syndrome | SpringerLink Skip to main content Advertisement SpringerLink Account Menu …