Weaver syndrome: a case without early overgrowth and review of the literature.
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.
Ramos-Arroyo
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MA
Servicio de Genetica, Hospital Virgen del Camino, Pamplona, Spain.
Weaver
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DD
Banks
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D000013:Congenital Abnormalities / Q000503:physiopathology*; D005260:Female; D006130:Growth Disorders / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome