The child presented at birth with oxygenation
failure caused by a severe congenital heart defect described as single
ventricle with absent left ventricle, absent mitral valve, and truncus
arteriosus. The boy also showed features of chondrodysplastic dwarfism with
short limbs, cryptorchism, and facial anomalies, including prominent nasal
bridge, epicanthal folds, and micrognathia. He died in the newborn period.