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Results for “Craniosynostoses”

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At least 19 recordsLinked to original sources
PubMed1978

Normal intelligence in two children with Carpenter syndrome.

Previous reports have noted a constant association between the Carpenter syndrome (acrocephalopolysyndactyly, type II) and mental retardation. We report two patients with this condition with normal intelligence. These observations indicate that mental deficiency is not necessarily a component of the Carpenter syndrome and that early surgical correction of the craniosynostoses may improve the chances of normal mentality.

Acrocephalosyndactylia↗
PubMed1975

Hypersarcosinemia with craniostenosis-syndactylism syndrome.

Hypersarcosinemia with craniostenosis-syndactylism syndrome. After a sarcosine loading the sarcosine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosine tolerance curves.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Biostereometric analysis of surgically corrected abnormal faces.

Biostereometrics is an accurate anthropometric system for quantifying geometric changes of facial form and the relationship of features as they are influenced by growth and by surgery. Facial features distant from the site of surgical intervention are influenced in their geometric relationship to each other by changes in the soft-tissue drape brought about by manipulation of skeletal tissues. The most accurate coordinate system should be elsewhere than on the surface of the face, but if this is not possible it should be in an area farthest removed from the surgical site. This investigation demonstrates that a usable coordinate transformation system can be created by connecting points supernasale and subnasale for establishing the Y Z plane and the construction of the X Z plane at subnasale. Accurate comparative numerical measurements can be made by using soft-tissue landmarks.

Acrocephalosyndactylia↗
PubMed1978

Premature craniosynostosis: A common complication of juvenile thyrotoxicosis.

Cranial vault suture opacification (apparent closure) and bone age were evaluated roentgenographically in ten children with thyrotoxicosis. The bone age was advanced greater than 2 SD in only one. In comparison to 96 control children of similar age, craniosynostosis was present in each of the patients with thyrotoxicosis. Children with advanced bone age, nine due to virilizing adrenal hyperplasia and three with precocious puberty, had normal radiographic patterns of cranial suture closure. Thyrotoxic premature craniosynostosis did not interfere with continued head circumference growth nor did it result in clinical or radiographic evidence of increased intracranial pressure. We conclude that premature craniosynostosis appears to be a common feature of juvenile thyrotoxicosis. Investigation of the possible long-term adverse effects of this entity on central nervous system function is advocated.

Adolescent↗
PubMed1977

Cephalometric observations in premature craniosynostosis.

Forty patients with premature craniosynostosis of variable extent and severity were subjected to cephalometry. The majority of the children and adolescents involved had undergone bilateral cranial fenestration at age 6 months to 11 years. Lateral cephalometric radiographs were used for analysis. The measurements obtained were compared with normal values of comparable age groups. In two thirds of the patients examined facial skull growth was found to be impaired, the clinical appearance ranging from pronounced faciostenosis to abortive forms. In some cases the clinical appearance was normal. One of the conclusions derived from the cephalometric data is that inhibited growth primarily affects the anterior portions of the skull base, which are found to be shorter than normal. The defect appears to involve the spheno-ethmoidal, intersphenoidal and sphenofrontal synochondroses.

Cephalometry↗
PubMed1979

Syndromology's message for craniofacial biology.

Syndromology is a misunderstood specialty that has much to contribute to the understanding of cranio-facial biology in general and the study of craniofacial anomalies in particular. An introduction to the practice of syndromology and the rudiments of syndrome delineation is presented. The aetiology and pathogenesis of selected craniofacial anomalies (Robin complex, hemifacial microsomia, and craniosynostosis) are considered from the perspective of syndromology.

Chromosomes↗
PubMed1977

Craniosynostosis: a new operative technique.

In the treatment of craniosynostosis several methods have been proposed to prevent craniectomies from early reclosure. New bone is formed at the edge of the craniectomy, but particularly at the outer surface of the dura. The author has developed a method to separate the edges from each other and to stop osteogenesis inside the craniectomy. The outer layer of the dura is dissected free from the inner layer folded over the edge of the groove and sutured to the outer periosteum. The operative technique and the results in 40 patients with a follow up of 17 years are described.

Child↗
PubMed1977

A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.

This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less frequently. Expression was variable and parents who were in the direct vertical line of transmission of the syndrome showed few, if any, overt signs of the disease. However, the metacarpal/phalangeal profile of the parents showed a similar pattern to that seen in the affected individuals, and it is suggested that this profile may be the most sensitive indicator of carrier status.

Adolescent↗
PubMed1979

Radiopharmaceutical bone scanning in pediatric neurosurgery.

Radionuclide bone scanning is an extremely sensitive, safe and widely applicable investigative aid. In most circumstances it cannot be employed to the exclusion of plain radiography as the two procedures--one dynamic and the other static--complement each other. In children, bone imaging demonstrates physiologic characteristics of bone growth and early suture closure, delineates obscure tumors and infection, recent or old trauma not always visible on orthodox radiography and may solve the diagnostic dilemma of a child with heretofore undiagnosed head, neck or back pain.

Back Pain↗
PubMed2024

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

BACKGROUND: Kleefstra syndrome spectrum (KLEFS) is an autosomal dominant disorder that can lead to intellectual disability and autism spectrum disorders. KLEFS encompasses Kleefstra syndrome-1 (KLEFS1) and Kleefstra syndrome-2 (KLEFS2), with KLEFS1 accounting for more than 75%. However, limited information is available regarding KLEFS2. KLEFS1 is caused by a subtelomeric chromosomal abnormality resulting in either deletion at the end of the long arm of chromosome 9, which contains the EHMT1 gene, or by variants in the EHMT1 gene and the KMT2C gene that cause KLEFS2. METHODS: This study was a retrospective analysis of clinical data from four patients with KLEFS. Exome sequencing (ES) and Sanger sequencing techniques were used to identify and validate the candidate variants, facilitating the analysis of genotype‒phenotype correlations of the EHMT1 and KMT2C genes. Protein structure modeling was performed to evaluate the effects of the variants on the protein's three-dimensional structure. In addition, real-time quantitative reverse transcription‒polymerase chain reaction (RT‒qPCR) and western blotting were used to examine the protein and mRNA levels of the KMT2C gene. RESULTS: Two patients with KLEFS1 were identified: one with a novel variant (c.2382 + 1G > T) and the other with a previously reported variant (c.2426 C > T, p.Pro809Leu) in the EHMT1 gene. A De novo deletion at the end of the long arm of chromosome 9 was also reported. Furthermore, a patient with KLEFS2 was identified with a novel variant in the KMT2C gene (c.568 C > T, p.Arg190Ter). The RT‒qPCR and western blot results revealed that the expression of the KMT2C gene was downregulated in the KLEFS2 sample. CONCLUSION: This study contributes to the understanding of both KLEFS1 and KLEFS2 by identifying novel variants in EHMT1 and KMT2C genes, thereby expanding the variant spectrum. Additionally, we provide the first evidence of how a KMT2C variant leads to decreased gene and protein expression, enhancing our understanding of the molecular mechanisms underlying KLEFS2. Based on these findings, children exhibiting developmental delay, hypotonia, distinctive facial features, and other neurodevelopmental abnormalities should be considered for ES to ensure early intervention and treatment.

Child↗
PubMed2026

Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.

BACKGROUND: Craniosynostosis is a genetically heterogeneous craniofacial disorder caused by the premature fusion of one or more cranial sutures. Pathogenic variants in TCF12, encoding a basic helix-loop-helix (bHLH) transcription factor, represent a major cause of autosomal dominant coronal craniosynostosis and are characterized by incomplete penetrance and marked phenotypic variability. However, clinical and molecular data from Asian pediatric populations remain limited. METHODS: Trio-based whole-exome sequencing was performed on ten pediatric patients with cranial deformities and their parents. The identified TCF12 variants were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines and validated by Sanger sequencing. Detailed clinical and radiological data were collected. In addition, a comprehensive literature review was conducted to summarize previously reported TCF12 variants and associated phenotypes. RESULTS: Ten distinct heterozygous TCF12 variants were identified in ten unrelated pediatric patients, all of which were classified as pathogenic or likely pathogenic according to ACMG criteria. Six variants were inherited, and four occurred de novo. Seven patients had imaging-confirmed craniosynostosis, predominantly involving the coronal sutures (five bilateral and one unilateral), while one patient presented with multisuture craniosynostosis (left coronal and sagittal sutures). Three patients showed cranial deformities without radiographic evidence of suture fusion. Phenotypic heterogeneity and incomplete penetrance were observed, including a mildly affected parent. Most pathogenic variants were truncating variants distributed mainly across exons 14-19 and predicted to induce loss of function, either through nonsense-mediated mRNA decay or the production of truncated proteins lacking the entire C-terminal bHLH domain. Structural modeling analysis further indicated that the bHLH-domain-located missense variant p.Arg603Trp alters the local DNA-binding conformation of TCF12 and impairs its binding affinity to the E-box DNA motif. CONCLUSIONS: This study provides additional clinical and molecular data on TCF12-related craniosynostosis in a pediatric cohort from an Asian population. Our findings support haploinsufficiency as the central pathogenic mechanism, primarily driven by truncating variants affecting the C-terminal bHLH domain. The marked clinical heterogeneity, the presence of mild or evolving phenotypes, and incomplete penetrance observed in our cohort underscore the importance of early diagnosis and longitudinal clinical surveillance in affected families.

Humans↗