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Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
Ali Al Kaissi1, Sergey Ryabykh1, Nabil Nassib2
1National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, 640032 Kurgan, Russia.
Diagnostics (Basel, Switzerland)
|October 27, 2022
Summary
Accurate diagnosis of craniofacial syndromes in children is crucial. This study highlights misdiagnoses and uses advanced imaging and genetic testing to identify conditions like Idaho syndrome, Silver-Russell syndrome, Contractural arachnodactyly Beals, and Parry-Romberg syndrome.
Area of Science:
- Pediatric genetics and dysmorphology.
- Medical imaging and diagnostics.
- Skeletal and craniofacial malformations.
Background:
- Craniofacial features are key indicators for diagnosing numerous syndromic entities.
- Accurate radiological interpretation is essential for precise phenotypic assessment.
- Misdiagnoses of pediatric orthopedic conditions are common, leading to delayed or incorrect treatment.
Purpose of the Study:
- To investigate and correctly diagnose pediatric patients with complex craniofacial and skeletal abnormalities.
- To evaluate the utility of advanced imaging and genetic testing in differentiating syndromic conditions.
- To highlight common diagnostic errors in pediatric orthopedic and genetic evaluations.
Main Methods:
- Detailed clinical examination of children aged 1 month to 12 years with prior misdiagnoses.
- Comprehensive radiological and tomographic phenotypic characterization.
- Genetic testing, including whole exome sequencing (WES) and array comparative genomic hybridization (array-CGH).
Main Results:
- Idaho syndrome diagnosed in two boys initially presenting with plagiocephaly and contractures.
- Silver-Russell syndrome (RSS) identified in two children misdiagnosed with pseudo-hydrocephalus.
- Contractural arachnodactyly Beals (CAB) confirmed in two girls with progressive scoliosis; Parry-Romberg syndrome (PRS) diagnosed in a girl with facial diplegia.
- Genetic findings included hypomethylation of ICR1 in RSS and heterozygous mutations in PRS patients; no significant variants found in CAB patients.
Conclusions:
- Craniofacial abnormalities in newborns can be complex and associated with various dysmorphic features, often leading to misdiagnosis.
- Limited clinical experience can result in conditions like contractures being mislabeled as idiopathic or non-specific syndromes.
- Advanced diagnostic tools like reconstruction CT scans are vital for accurate delineation of craniofacial and skeletal malformations.
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