Further delineation of Weaver syndrome

Holly H. Ardinger; James W. Hanson; Mary Jo E. Harrod; M. Michael Cohen; John A.R. Tibbles; J. Philip Welch; Theresa Young-Wee; Annemarie Sommer; Rosalie Goldberg; Robert J. Shprintzen; Eugene J. Sidoti; Lawrence G. Leichtman; H. Eugene Hoyme

doi:10.1016/S0022-3476(86)80988-X

Further delineation of Weaver syndrome

Holly H. Ardinger, James W. Hanson, Mary Jo E. Harrod, M. Michael Cohen, John A.R. Tibbles, J. Philip Welch, Theresa Young-Wee, Annemarie Sommer, Rosalie Goldberg, Robert J. Shprintzen, Eugene J. Sidoti, Lawrence G. Leichtman, H. Eugene Hoyme

Medicine

Medicine

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

36 Citas (Scopus)

Resumen

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.

Idioma original	English
Páginas (desde-hasta)	228-235
Número de páginas	8
Publicación	Journal of Pediatrics
Volumen	108
N.º	2
DOI	https://doi.org/10.1016/S0022-3476(86)80988-X
Estado	Published - feb. 1986

ASJC Scopus Subject Areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(86)80988-X

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title = "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.",

author = "Ardinger, {Holly H.} and Hanson, {James W.} and Harrod, {Mary Jo E.} and Cohen, {M. Michael} and Tibbles, {John A.R.} and Welch, {J. Philip} and Theresa Young-Wee and Annemarie Sommer and Rosalie Goldberg and Shprintzen, {Robert J.} and Sidoti, {Eugene J.} and Leichtman, {Lawrence G.} and Hoyme, {H. Eugene}",

year = "1986",

month = feb,

doi = "10.1016/S0022-3476(86)80988-X",

language = "English",

volume = "108",

pages = "228--235",

journal = "Journal of Pediatrics",

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T1 - Further delineation of Weaver syndrome

AU - Ardinger, Holly H.

AU - Hanson, James W.

AU - Harrod, Mary Jo E.

AU - Cohen, M. Michael

AU - Tibbles, John A.R.

AU - Welch, J. Philip

AU - Young-Wee, Theresa

AU - Sommer, Annemarie

AU - Goldberg, Rosalie

AU - Shprintzen, Robert J.

AU - Sidoti, Eugene J.

AU - Leichtman, Lawrence G.

AU - Hoyme, H. Eugene

PY - 1986/2

Y1 - 1986/2

N2 - 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.

AB - 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.

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U2 - 10.1016/S0022-3476(86)80988-X

DO - 10.1016/S0022-3476(86)80988-X

M3 - Article

C2 - 2418189

AN - SCOPUS:0022636447

SN - 0022-3476

VL - 108

SP - 228

EP - 235

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 2

ER -

Further delineation of Weaver syndrome

Resumen

ASJC Scopus Subject Areas

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Huella

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