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Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report

RATIONALE: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the eti...

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Autores principales: Al Kaissi, Ali, Marrakchi, Zahra, Nassib, Nabil M., Hofstaetter, Jochen, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371443/
https://www.ncbi.nlm.nih.gov/pubmed/28328806
http://dx.doi.org/10.1097/MD.0000000000006199
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author Al Kaissi, Ali
Marrakchi, Zahra
Nassib, Nabil M.
Hofstaetter, Jochen
Grill, Franz
Ganger, Rudolf
Kircher, Susanne Gerit
author_facet Al Kaissi, Ali
Marrakchi, Zahra
Nassib, Nabil M.
Hofstaetter, Jochen
Grill, Franz
Ganger, Rudolf
Kircher, Susanne Gerit
author_sort Al Kaissi, Ali
collection PubMed
description RATIONALE: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. PATIENT CONCERNS: The negative impact of the disorder on the child and his family is enormous. Particularly when the diagnosis is late and little can be done. Though counselling the family through discussing the whole picture of the disorder might lessens their concern. DIAGNOSES: Diagnosis is the corner stone of management. In this paper we aimed to sensitize pediatricians, physicians, and orthopedic surgeons concerning the necessity to recognize syndromic associations early on. INTERVENTIONS: Patients with syndromic craniosynostosis are usually associated with a complexity of malformation complex. Craniofacial surgery can be of remarkable help if the diagnosis is made early. It requires a series of corrections to avoid intellectual disability and other neurological deficits. The timing of interventions is strongly correlated on the timing of diagnosis. OUTCOMES: The earliest the diagnoses, the much better the outcomes are. And consequently avert the psychological and the financial cost on the patient and his family. LESSONS: The golden principle of medicine should prevail in all medical disciplines, which states: The more you see, the more you know and conversely the more you know is the more you see.
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spelling pubmed-53714432017-04-03 Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report Al Kaissi, Ali Marrakchi, Zahra Nassib, Nabil M. Hofstaetter, Jochen Grill, Franz Ganger, Rudolf Kircher, Susanne Gerit Medicine (Baltimore) 6800 RATIONALE: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. PATIENT CONCERNS: The negative impact of the disorder on the child and his family is enormous. Particularly when the diagnosis is late and little can be done. Though counselling the family through discussing the whole picture of the disorder might lessens their concern. DIAGNOSES: Diagnosis is the corner stone of management. In this paper we aimed to sensitize pediatricians, physicians, and orthopedic surgeons concerning the necessity to recognize syndromic associations early on. INTERVENTIONS: Patients with syndromic craniosynostosis are usually associated with a complexity of malformation complex. Craniofacial surgery can be of remarkable help if the diagnosis is made early. It requires a series of corrections to avoid intellectual disability and other neurological deficits. The timing of interventions is strongly correlated on the timing of diagnosis. OUTCOMES: The earliest the diagnoses, the much better the outcomes are. And consequently avert the psychological and the financial cost on the patient and his family. LESSONS: The golden principle of medicine should prevail in all medical disciplines, which states: The more you see, the more you know and conversely the more you know is the more you see. Wolters Kluwer Health 2017-03-24 /pmc/articles/PMC5371443/ /pubmed/28328806 http://dx.doi.org/10.1097/MD.0000000000006199 Text en Copyright © 2017 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
spellingShingle 6800
Al Kaissi, Ali
Marrakchi, Zahra
Nassib, Nabil M.
Hofstaetter, Jochen
Grill, Franz
Ganger, Rudolf
Kircher, Susanne Gerit
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report
title Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report
title_full Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report
title_fullStr Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report
title_full_unstemmed Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report
title_short Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report
title_sort craniosynostosis, scheuermann's disease, and intellectual disability resembling shprintzen–goldberg syndrome: a report on a family over 4 generations: case report
topic 6800
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371443/
https://www.ncbi.nlm.nih.gov/pubmed/28328806
http://dx.doi.org/10.1097/MD.0000000000006199
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