Further delineation of Weaver syndrome.

Abstract

Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the distal long bones, is diagnostic of Weaver syndrome.

• Authors: H H Ardinger, J W Hanson, M J Harrod, M M Cohen Jr, J A Tibbles, J P Welch, T Young-Wee, A Sommer, R Goldberg, R J Shprintzen
• Journal: The Journal of pediatrics (J Pediatr) Vol. 108 Issue 2 Pg. 228-35 (Feb 1986) ISSN: 0022-3476 [Print] United States
• PMID: 2418189 (Publication Type: Case Reports, Comparative Study, Journal Article)

Topics

• Adult
• Bone Development
• Child
• Child, Preschool
• Developmental Disabilities (diagnosis)
• Facial Expression
• Female
• Growth Disorders (diagnosis, diagnostic imaging)
• Humans
• Infant
• Male
• Radiography
• Syndrome