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Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities

Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Different children aged from 1 month to 12 years were refe...

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Autores principales: Al Kaissi, Ali, Ryabykh, Sergey, Nassib, Nabil, Bouchoucha, Sami, Benjemaa, Lamia, Rejeb, Imen, Hizem, Syrine, Kenis, Vladimir, Grill, Franz, Kircher, Susanne Gerit, Shboul, Mohammad, Ben Chehida, Farid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600391/
https://www.ncbi.nlm.nih.gov/pubmed/36292064
http://dx.doi.org/10.3390/diagnostics12102375
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author Al Kaissi, Ali
Ryabykh, Sergey
Nassib, Nabil
Bouchoucha, Sami
Benjemaa, Lamia
Rejeb, Imen
Hizem, Syrine
Kenis, Vladimir
Grill, Franz
Kircher, Susanne Gerit
Shboul, Mohammad
Ben Chehida, Farid
author_facet Al Kaissi, Ali
Ryabykh, Sergey
Nassib, Nabil
Bouchoucha, Sami
Benjemaa, Lamia
Rejeb, Imen
Hizem, Syrine
Kenis, Vladimir
Grill, Franz
Kircher, Susanne Gerit
Shboul, Mohammad
Ben Chehida, Farid
author_sort Al Kaissi, Ali
collection PubMed
description Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice. Primarily, all received variable false diagnoses in other institutes. Two unrelated boys of one month and 12 months were falsely diagnosed as having positional plagiocephaly associated with contractures of idiopathic origin. Two unrelated boys of 14 months and 2 years were diagnosed with pseudo-hydrocephalus and non-specific syndrome, and were referred to explore their skeletal development. Two unrelated girls of 4 years old and 12 years old presented with multiple contractures were referred because of progressive scoliosis. A 4-year-old girl was referred with a false provisional diagnosis of facial diplegia. All children underwent detailed clinical, radiological and tomographic phenotypic characterizations and genetic testing, respectively. Results: Idaho syndrome (craniosynostosis associated with multiple dislocations) was the final diagnosis in the two unrelated boys with plagiocephaly and multiple contractures. Two children falsely diagnosed with pseudo-hydrocephalus and non-specific syndrome, were diagnosed with Silver–Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry–Romberg syndrome (PRS) associated with congenital lumbar kyphosis was the final diagnosis of the girl with the diagnosis of facial diplegia. Hypomethylation of ICR1 was confirmed in the RSS patients. Whole exome sequencing (WES) revealed a heterozygous mutation in the PRS patients. WES and array-CGH showed that no relevant variants or copy number variations (CNV) were identified in the CAB patients. Conclusions: On the one hand, newborn children can manifest diverse forms of abnormal craniofacial features, which are usually associated with either major or minor dysmorphic stigmata. A cleft lip/ palate is a major craniofacial malformation, and frontal bossing or a disproportionate craniofacial contour can be falsely considered as a transient plagiocephaly, which is spontaneously resolved by time. On the other hand, many physicians fall into the problem of deeming a countless number of diseases, such as contractures, as an idiopathic or non-specific syndrome. The latter stems from limited clinical experience. Therefore, failing to establish between the onset of the deformity and other inexplicit abnormal features that the patient or their immediate families or relatives carry is the final outcome. In this study, we used, for the first time, a reconstruction CT scan to further delineate the congenital disruption of the craniofacial anatomy and the other skeletal malformation complex.
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spelling pubmed-96003912022-10-27 Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities Al Kaissi, Ali Ryabykh, Sergey Nassib, Nabil Bouchoucha, Sami Benjemaa, Lamia Rejeb, Imen Hizem, Syrine Kenis, Vladimir Grill, Franz Kircher, Susanne Gerit Shboul, Mohammad Ben Chehida, Farid Diagnostics (Basel) Article Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice. Primarily, all received variable false diagnoses in other institutes. Two unrelated boys of one month and 12 months were falsely diagnosed as having positional plagiocephaly associated with contractures of idiopathic origin. Two unrelated boys of 14 months and 2 years were diagnosed with pseudo-hydrocephalus and non-specific syndrome, and were referred to explore their skeletal development. Two unrelated girls of 4 years old and 12 years old presented with multiple contractures were referred because of progressive scoliosis. A 4-year-old girl was referred with a false provisional diagnosis of facial diplegia. All children underwent detailed clinical, radiological and tomographic phenotypic characterizations and genetic testing, respectively. Results: Idaho syndrome (craniosynostosis associated with multiple dislocations) was the final diagnosis in the two unrelated boys with plagiocephaly and multiple contractures. Two children falsely diagnosed with pseudo-hydrocephalus and non-specific syndrome, were diagnosed with Silver–Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry–Romberg syndrome (PRS) associated with congenital lumbar kyphosis was the final diagnosis of the girl with the diagnosis of facial diplegia. Hypomethylation of ICR1 was confirmed in the RSS patients. Whole exome sequencing (WES) revealed a heterozygous mutation in the PRS patients. WES and array-CGH showed that no relevant variants or copy number variations (CNV) were identified in the CAB patients. Conclusions: On the one hand, newborn children can manifest diverse forms of abnormal craniofacial features, which are usually associated with either major or minor dysmorphic stigmata. A cleft lip/ palate is a major craniofacial malformation, and frontal bossing or a disproportionate craniofacial contour can be falsely considered as a transient plagiocephaly, which is spontaneously resolved by time. On the other hand, many physicians fall into the problem of deeming a countless number of diseases, such as contractures, as an idiopathic or non-specific syndrome. The latter stems from limited clinical experience. Therefore, failing to establish between the onset of the deformity and other inexplicit abnormal features that the patient or their immediate families or relatives carry is the final outcome. In this study, we used, for the first time, a reconstruction CT scan to further delineate the congenital disruption of the craniofacial anatomy and the other skeletal malformation complex. MDPI 2022-09-30 /pmc/articles/PMC9600391/ /pubmed/36292064 http://dx.doi.org/10.3390/diagnostics12102375 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Al Kaissi, Ali
Ryabykh, Sergey
Nassib, Nabil
Bouchoucha, Sami
Benjemaa, Lamia
Rejeb, Imen
Hizem, Syrine
Kenis, Vladimir
Grill, Franz
Kircher, Susanne Gerit
Shboul, Mohammad
Ben Chehida, Farid
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
title Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
title_full Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
title_fullStr Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
title_full_unstemmed Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
title_short Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
title_sort craniofacial malformations as fundamental diagnostic tools in syndromic entities
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600391/
https://www.ncbi.nlm.nih.gov/pubmed/36292064
http://dx.doi.org/10.3390/diagnostics12102375
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