ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2016
Clinical and neuroradiological features of the 9p deletion syndrome.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 61 citations in OpenAlex.
- Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review.Medicine · 2026Review
- Congenital hyperinsulinemic hypoglycaemia in an infant with 9p deletion syndrome.Annals of pediatric endocrinology & metabolism · 2025Article
- Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.Frontiers in genetics · 2025Article
- Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.European journal of human genetics : EJHG · 2024Article
- Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes.Journal of cellular and molecular medicine · 2023Article
- Review
- A de novo chromosome 9p duplication in a female child with short stature and developmental delay.SAGE open medical case reports · 2023Article
- Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype.Open life sciences · 2022Article
- Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.Molecular genetics & genomic medicine · 2021Article
- Imaging in craniosynostosis: when and what?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Review
- Patient With Delayed Development Resulting FromAnnals of rehabilitation medicine · 2017Article
- Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.Molecular syndromology · 2017Article
- Genetic advances in craniosynostosis.American journal of medical genetics. Part A · 2017Review
- A case of 9p deletion syndrome with congenital infantile glaucoma, effective method of diagnosis, and treatment.International journal of ophthalmology · 2017Article
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Authors and funding
7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 9p deletion syndrome is a rare condition, which associates trigonocephaly, facial dysmorphism and developmental delay. The neuroradiological aspects of this syndrome have not yet been described. The purpose of this article is to identify the clinical and neuroradiological features, that should be recognized by all specialists treating these children, for a proper and early diagnosis.
methodsAmong patients with trigonocephaly treated at our institution, we retrospectively analyzed the clinical and neuroradiological aspects of children with genetically confirmed 9p deletion syndrome.
results6 patients were identified. Beside trigonocephaly, the most frequent clinical findings were small ears, long philtrum, upslanting palpebral fissures, flat nasal bridge and variable psycho-motor delay. Hypertelorism was present in 4 of 6 patient, which is opposite to the hypotelorism typical of non-syndromic trigonocephaly. Among neuroradiological findings, large, anteriorly rotated sylvian cisterns and altered shape of the septum pellucidum were found in all patients, as well as the compression of the frontal cortex due to the metopic synostosis (MS). A thin or dysmorphic corpus callosum and a diffuse white matter hypoplasia were present in more than half of the cases. Futhermore we compared these MRI findings with those of a control group of 30 non-syndromic trigonocephalies.
conclusionsSome recurrent neuroradiological alterations can be found in 9p deletion syndrome. The presence of these signs on MRI of a trigonocephalic patient should raise the suspicion of an underlying chromosomal alteration, such as the 9p deletion syndrome and prompt genetic investigations.
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