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Further delineation of Weaver syndrome
Authors:H H Ardinger  J W Hanson  M J Harrod  M M Cohen  J A Tibbles  J P Welch  T Young-Wee  A Sommer  R Goldberg  R J Shprintzen
Affiliation:1. Section of Pediatric Surgery, Department of Surgery, The University of Michigan Medical School and The C.S. Mott Children''s Hospital, Ann Arbor, MI;2. Department of Pediatric Surgery–General and Thoracic Surgery, University Hospital Rainbow Babies and Children''s Hospital, Cleveland, OH;3. Division of Pediatric Surgery, University of North Carolina Department of Surgery, Chapel Hill, NC;4. Austin Pediatric Surgery, Dell Children''s Medical Center, Austin, TX;1. University of California, Irvine Medical Center, Department of Surgery, Orange, CA;2. University of California Irvine, Biostatistics, Institute for Clinical and Translational Science, Irvine, CA;3. University of California, Irvine School of Medicine, Department of Medicine, Orange, CA;4. Pediatric Intensive Care Unit, Children''s Hospital Bambino Gesù, IRCCS, Rome, Italy;5. Children''s Hospital of Orange County, Division of Neonatology, Orange, CA;6. Children''s Hospital of Orange County, Division of Pediatric Surgery, Orange, CA
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.
Keywords:
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