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PMID: 15326632 Published · ppublish English Case Reports Journal Article

Craniofacial dyssynostosis: case report and review.

American journal of medical genetics. Part A ·Vol. 129A ·No. 3 ·2004-09-01 ·页码 300-2

Grosso S, Vivarelli R, Muraca MC, Berardi R, Marconcini S, Morgese G, Balestri P

Abstract

Craniofacial dyssynostosis (CFD) is a rare disorder related to premature closure of the lambdoid suture and the posterior part of the sagittal suture. Epilepsy, mental retardation, abnormalities of the corpus callosum, and short stature have been reported. We studied a patient with CFD, hydronephrosis, and partially empty sella turcica; the latter two features are reported for the first time. We discuss the brain anomalies and their neurologic sequelae, which are part of the CFD phenotype.

MeSH 主题词
Abnormalities, Multiple/pathology Brain/abnormalities Child Craniofacial Dysostosis/pathology Humans Intellectual Disability Male Ocular Motility Disorders/pathology Phenotype Urogenital Abnormalities/pathology
作者与单位
共 7 位作者,点击展开单位 / ORCID
Grosso Salvatore
Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy.
Vivarelli Rossella
Muraca Maria Carmela
Berardi Rosario
Marconcini Silvia
Morgese Guido
Balestri Paolo
Article Info
Journal
American journal of medical genetics. Part A
Abbr.
Am J Med Genet A
ISSN
1552-4825
Published
2004-09-01
页码
300-2
Language
English
Country/Region
United States
NLM ID
101235741
勘误 / 撤稿关联
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