Cranial dysmorphology observed in patients with metopic craniosynostosis varies along a spectrum of severity including varying degrees of metopic ridging, bitemporal narrowing, and trigonocephaly. Management has been based upon the subjective clinical impression of presence and severity of trigonocephaly. Severity of cranial dysmorphology does not predict the occurrence or severity of associated abnormal neurodevelopment, as children with mild-to-moderate trigonocephaly may also experience developmental delays. The authors sought to determine the relationship between mild-to-moderate trigonocephaly and anterior cranial volume using a noninvasive laser shape digitizer (STARscanner) in patients with abnormal head shape.An IRB-approved retrospective review of a prospectively maintained database and medical records was performed. Two hundred three patients less than 1 year of age with abnormal head shape were categorized as having a metopic ridge with mild-to-moderate trigonocephaly, metopic ridge without trigonocephaly, or no ridge. Measurements of cranial volume, circumference, and symmetry were calculated by the STARscanner, which quantifies three-dimensional shape of the cranial surface. Measures were analyzed using a series of analyses of variance and post-hoc Tukey honest significant difference.The authors results showed ACV was significantly reduced in patients with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.009), and trended toward significance compared with those with a ridge but without trigonocephaly (P = 0.072). The ratio of anterior-to-posterior cranial volume was significantly reduced in those with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.036).In conclusion, patients with milder anterior cranial deformities demonstrated an association between a metopic ridge with mild-to-moderate trigonocephaly and reduced anterior cranial volume.
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http://dx.doi.org/10.1097/SCS.0000000000004065 | DOI Listing |
World Neurosurg
December 2024
College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard, Riyadh, Saudi Arabia; Department of Pediatrics Neurosurgery, King Abdullah Specialist Children Hospital, Ministry of National Guard, Riyadh, Saudi Arabia.
Background: Sutural anatomy variation has long been a topic of debate among anatomists, paleontologists, and morphologists. While the exact reasons for the prevalence of this variance remains a topic of ongoing discussion, developmental and genetic factors are hypothesized to be the main reasons. Understanding the morphology and occurrence of normal sutural variations in pediatric patients is essential to making the right diagnosis, where a misinterpretation of a sutural bone may lead to an inaccurate assessment, completely misleading the diagnostic process.
View Article and Find Full Text PDFAm J Med Genet A
February 2025
Hunter Genetics, Hunter New England Health Service, Newcastle, Australia.
Mol Syndromol
August 2024
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Introduction: Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is caused by pathogenic variants in exon 33 of . Variants in this final exon of interrupt the regulatory PEST domain, leading to enhanced signaling due to prolonged cellular half-life. Individuals with LMS are expected to have multiple lateral meningoceles, developmental delay, neonatal hypotonia, dysmorphic facial features, and feeding difficulties.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
August 2024
Department of Plastic and Reconstructive Surgery, Osaka City General Hospital, Osaka, Japan.
Background: Craniosynostosis, a common congenital anomaly, results from premature fusion of the cranial sutures. One of the forms of craniosynostosis is premature fusion of the metopic suture, referred to as trigonocephaly, but the diagnosis of metopic suture synostosis remains controversial. The purpose of this study was to clarify, using geometric morphometric analysis, if a metopic ridge alone observed in cases of mild trigonocephaly represents a pathological phenomenon.
View Article and Find Full Text PDFPediatr Rep
May 2024
Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria.
Background: Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with the so-called idiopathic type of West syndrome.
Material And Methods: The basic diagnostic measures and the classical antiepileptic treatments were applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of the idiopathic type of West syndrome, aged 7, 10 and 12 years old.
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