Mcdonough Syndrome

Neuhauser and Opitz (1975) described a family with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting of mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect. They called it McDonough syndrome. Three of 5 sibs were affected, leading to a suggestion of autosomal recessive inheritance. The authors considered it coincidental that the youngest affected sib had a chromosomal complement 47,XXY and the father was a mosaic 46,XY/47,XXY. Garcia-Sagredo et al. (1984) reported a second family in which 2 of 3 sibs (a girl and a boy) were affected. It was considered coincidental that the affected boy and the unaffected mother had a balanced X;20 translocation. The father had ptosis, which was also considered coincidental.