{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:34:56Z","timestamp":1760243696368,"version":"build-2065373602"},"reference-count":19,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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\u2013Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry\u2013Romberg 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.<\/jats:p>","DOI":"10.3390\/diagnostics12102375","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T01:52:21Z","timestamp":1665193941000},"page":"2375","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1599-6050","authenticated-orcid":false,"given":"Ali","family":"Al Kaissi","sequence":"first","affiliation":[{"name":"National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, 640032 Kurgan, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Ryabykh","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, 640032 Kurgan, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nabil","family":"Nassib","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopedics, Children Hospital, Tunis 1029, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1425-8312","authenticated-orcid":false,"given":"Sami","family":"Bouchoucha","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopedics, Children Hospital, Tunis 1029, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia","family":"Benjemaa","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Mongi Slim Hospital, Tunis 2046, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imen","family":"Rejeb","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Mongi Slim Hospital, Tunis 2046, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syrine","family":"Hizem","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Mongi Slim Hospital, Tunis 2046, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir","family":"Kenis","sequence":"additional","affiliation":[{"name":"Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, 196605 Saint-Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz","family":"Grill","sequence":"additional","affiliation":[{"name":"Orthopedic Hospital of Speising, Pediatric Department, 1130 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Kircher","sequence":"additional","affiliation":[{"name":"Department of Medical Patho-Chemistry and Genetics, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Shboul","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farid","family":"Ben Chehida","sequence":"additional","affiliation":[{"name":"Ibn Zohr Institute of Radiology and Imaging, Tunis 1003, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,30]]},"reference":[{"key":"ref_1","first-page":"24","article-title":"Larsen syndrome and craniosynostosis: Idaho syndrome?","volume":"3","author":"Escobar","year":"1989","journal-title":"Dysmorphol. 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