Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Definition
Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.
Also known as Goossens-Devriendt syndrome — per MONDO