Tetralogy of Fallot

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Short neck

Diminished length of the neck.


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PMID (PMCID)
2714786
 MALE Infant
Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.
Lundbech PE, Thogersen T.
Hum Genet. 1989;82(1):92-3.
He showed developmental retardation, low-set ears, micrognathia, short, neck, abundant skin of the neck, tetralogy of Fallot, bipartite labialike scrotum, clitorislike penis, cryptorchism, and deformities of the hands and feet.