1 From the Servicio de Genetica, Hospital Virgen del Camino, Pamplona, Spain
2 From the Department of Medical Genetics, Indiana University School of Medicine, Indianapolis
3 From the Department of Pathology, Indiana University School of Medicine, Indianapolis
A female child with Weaver syndrome is described. She did not show the excessive growth characteristic of this syndrome until after adequate caloric intake was achieved by feeding through a gastric feeding tube. Her inadequate nutrition was a result of feeding difficulties during infancy. In addition, she had recurrent pulmonary infections, apneic spells, and severe developmental delay. She died at 16 months of sepsis, congestive heart failure, and respiratory arrest. The autopsy revealed marked atrophy of the brain and cardiac ventricular hypertrophy. Most of the brain changes were thought to be from hypoxia.
Key Words: accelerated osseous maturation birth defect macrocephaly overgrowth Weaver syndrome
Submitted on October 12, 1989
Accepted on September 20, 1990