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Neurosurgical Review Apr 2024Scaphocephaly is the most common type of craniosynostosis and various surgical techniques are used for treatment. Due to late postoperative changes of the head shape,...
Scaphocephaly is the most common type of craniosynostosis and various surgical techniques are used for treatment. Due to late postoperative changes of the head shape, long-term outcome data is important for evaluating any new surgical technique. At our institution, minimally invasive strip craniectomy without regular helmet therapy is the standard treatment in scaphocephalic patients. Between October 2021 and February 2023, we retrospectively examined the skull shape of patients who underwent minimally invasive strip craniectomy for scaphocephaly using a 3D surface scan technique. The cephalic index (CI), the need for helmet therapy and additional cosmetic outcome parameters were investigated. We included 70 patients (72.5% male). The mean follow-up time was 46 (10-125) months and the mean CI was 75.7 (66.7-85.2). In 58 patients, the final cosmetic result was rated as "excellent/good" (mean CI: 76.3; 70.4-85.0), in 11 as "intermediate" (mean CI: 73.3; 66.7-77.6), and in one case as "unsatisfactory" (CI 69.3). The presence of a suboccipital protrusion was associated with a "less than good" outcome. The CI correlated significantly with the overall outcome, the presence of frontal bossing, and the interval between scan and surgery (age at scan). Minimally invasive strip craniectomy is an elegant and safe method to correct scaphocephaly. Our data show good cosmetic results in the long term even without regular postoperative helmet therapy.
Topics: Humans; Male; Female; Retrospective Studies; Craniosynostoses; Skull; Craniotomy; Postoperative Period
PubMed: 38630329
DOI: 10.1007/s10143-024-02406-z -
Science Progress 2024Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder, typically inherited as an autosomal dominant condition. Here, we report on a family in which... (Review)
Review
Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder, typically inherited as an autosomal dominant condition. Here, we report on a family in which germline mosaicism for TCS was likely present. The proband was diagnosed with TCS based on the typical clinical features and a pathogenic variant (c.4369_4373delAAGAA, p.K1457Efs*12). The mutation was not detected in his parents' peripheral blood DNA samples, suggesting a mutation had occurred in the proband. However, a year later, the proband's mother became pregnant, and the amniotic fluid puncture revealed that the fetus carried the same mutation as the proband. Prenatal ultrasound also indicated a maxillofacial dysplasia with unilateral microtia. The mother then disclosed a previous birth history in which a baby had died of respiratory distress shortly after birth, displaying a TCS-like phenotype. Around the same time, the proband's father was diagnosed with mild bilateral conductive hearing loss. Based on array data, we concluded that the father may have had germline mosaicism for mutation. Our findings highlight the importance of considering germline mosaicism in sporadic mutations when providing genetic consulting, and prenatal diagnosis is important when the proband's parents become pregnant again.
Topics: Humans; Pedigree; Mosaicism; Mandibulofacial Dysostosis; Mutation; Germ Cells
PubMed: 38629201
DOI: 10.1177/00368504241242278 -
Scientific Reports Apr 2024Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal...
Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS phenotype. Previous genome-wide association and targeted sequencing analyses of sNCS have identified multiple associated loci, with the strongest association on chromosome 20. Herein, we report the first whole-genome sequencing study of sNCS using 63 proband-parent trios. Sequencing data for these trios were analyzed using the transmission disequilibrium test (TDT) and rare variant TDT (rvTDT) to identify high-risk rare gene variants. Sequencing data were also examined for copy number variants (CNVs) and de novo variants. TDT analysis identified a highly significant locus at 20p12.3, localized to the intergenic region between BMP2 and the noncoding RNA gene LINC01428. Three variants (rs6054763, rs6054764, rs932517) were identified as potential causal variants due to their probability of being transcription factor binding sites, deleterious combined annotation dependent depletion scores, and high minor allele enrichment in probands. Morphometric analysis of cranial vault shape in an unaffected cohort validated the effect of these three single nucleotide variants (SNVs) on dolichocephaly. No genome-wide significant rare variants, de novo loci, or CNVs were identified. Future efforts to identify risk variants for sNCS should include sequencing of larger and more diverse population samples and increased omics analyses, such as RNA-seq and ATAC-seq.
Topics: Humans; Alleles; Bone Morphogenetic Protein 2; Craniosynostoses; DNA, Intergenic; Genome-Wide Association Study; Whole Genome Sequencing; RNA, Long Noncoding
PubMed: 38609424
DOI: 10.1038/s41598-024-58343-w -
Clinical Medicine & Research Mar 2024Goldenhar syndrome, a rare congenital anomaly, manifests as craniofacial malformations often necessitating intricate surgical interventions. These procedures, though...
Goldenhar syndrome, a rare congenital anomaly, manifests as craniofacial malformations often necessitating intricate surgical interventions. These procedures, though crucial, can expose patients to diverse postoperative complications, including hemorrhage or infection. A noteworthy complication is stroke, potentially linked to air embolism or local surgical trauma. We highlight a case of a male patient, aged 20 years, who experienced a significant postoperative complication of an ischemic stroke, theorized to be due to an air embolism, after undergoing orthognathic procedures for Goldenhar syndrome. The patient was subjected to LeFort I maxillary osteotomy, bilateral sagittal split ramus osteotomy of the mandible, and anterior iliac crest bone grafting to the right maxilla. He suffered an acute ischemic stroke in the left thalamus post-surgery, theorized to stem from an air embolism. Advanced imaging demonstrated air pockets within the cavernous sinus, a rare and concerning finding suggestive of potential air embolism. This case underscores the intricate challenges in treating Goldenhar syndrome patients and the rare but significant risk of stroke due to air embolism or surgical trauma. Limited literature on managing air embolism complications specific to Goldenhar syndrome surgeries exists. Generally, management includes immediate recognition, positional adjustments, air aspiration via central venous catheters, hyperbaric oxygen therapy, hemodynamic support, and high-flow oxygen administration to expedite air resorption. Our patient was conservatively managed post-surgery, and at a 3-month neurology follow-up, he showed significant improvement with only residual right arm weakness. It emphasizes the imperative of a comprehensive, multidisciplinary approach.
Topics: Humans; Male; Goldenhar Syndrome; Ischemic Stroke; Orthognathic Surgery; Embolism, Air; Stroke; Intraoperative Complications
PubMed: 38609140
DOI: 10.3121/cmr.2024.1882 -
JAMA May 2024
Topics: Humans; Infant; Infant, Newborn; Craniosynostoses; Head; Head Protective Devices; Syndrome
PubMed: 38602706
DOI: 10.1001/jama.2023.26048 -
Nature Apr 2024
Topics: Humans; Autistic Disorder; Long QT Syndrome; Animals; Mice; Molecular Targeted Therapy; Syndactyly
PubMed: 38600188
DOI: 10.1038/d41586-024-00911-1 -
Journal of Pediatric Orthopedics Jul 2024
Topics: Humans; Magnetic Resonance Imaging; Reproducibility of Results; Tarsal Coalition
PubMed: 38595078
DOI: 10.1097/BPO.0000000000002680 -
Annals of Medicine and Surgery (2012) Apr 2024Sialidosis is a rare variety of lysosomal storage disease that results in intracellular accumulation of sialic acid containing compounds. The authors report the first...
BACKGROUND
Sialidosis is a rare variety of lysosomal storage disease that results in intracellular accumulation of sialic acid containing compounds. The authors report the first case of type II sialidosis, juvenile subtype in a 30-month-old male child from Nepal.
CASE PRESENTATION
Progressive hearing loss with coarse facies, hepatomegaly, kyphoscoliosis, dysostosis multiplex were the major features in a 30-month-old child born to healthy non-consanguineous parents. With the suspicion of lysosomal storage disease, urinary oligosaccharides were tested and were positive. Whole-exome sequencing revealed a mutation in the neuraminidase gene (NEU1) and established the diagnosis of sialidosis.
CLINICAL DISCUSSION
Sialidosis is a rare autosomal recessive type of lysosomal storage disease resulting due to mutation of the neuraminidase gene leading to intracellular accumulation of sialic acid compounds. Based on the presence of visual symptoms, sialidosis is classified into type I and II varieties. Our case is of type II juvenile sialidosis.
CONCLUSION
Despite rare, sialidosis is a life-threatening, and disabling disease. Exploring targeted therapy is the utmost to treat this condition.
PubMed: 38576973
DOI: 10.1097/MS9.0000000000001768