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Genes May 2024Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately... (Review)
Review
Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately 55% of RTS cases result from pathogenic variants in the gene, with an additional 8% linked to the gene. Given the close relationship between these two genes and their involvement in epigenomic modulation, RTS is grouped into chromatinopathies. The extensive clinical heterogeneity observed in RTS, coupled with the growing number of disorders involving the epigenetic machinery, poses a challenge to a phenotype-based diagnostic approach for these conditions. Here, we describe the first case of a patient clinically diagnosed with RTS with a truncating variant in mosaic form. We also review previously described cases of mosaicism in and apply clinical diagnostic guidelines to these patients, confirming the good specificity of the consensus. Nonetheless, these reports raise questions about the potential underdiagnosis of milder cases of RTS. The application of a targeted phenotype-based approach, coupled with high-depth NGS, may enhance the diagnostic yield of whole-exome sequencing (WES) in mild and mosaic conditions.
Topics: Humans; CREB-Binding Protein; Mosaicism; Rubinstein-Taybi Syndrome; Phenotype; Mutation; Exome Sequencing; Male; Female
PubMed: 38927590
DOI: 10.3390/genes15060654 -
Plastic and Reconstructive Surgery Jul 2024
Topics: Humans; Endoscopy; Craniosynostoses; Follow-Up Studies; Imaging, Three-Dimensional; Treatment Outcome; Infant; Longitudinal Studies
PubMed: 38923929
DOI: 10.1097/PRS.0000000000011349 -
Journal of Pharmacy & Bioallied Sciences Apr 2024Pycnodysostosis is an inherited autosomal recessive disorder characterized by dysplasia of the skeletal system. It occurs in any human races with no disparity in gender...
Pycnodysostosis is an inherited autosomal recessive disorder characterized by dysplasia of the skeletal system. It occurs in any human races with no disparity in gender or age predilection. The disease is diagnosed at a young age owing to the frequent fragile bone fractures. Craniofacial and dental manifestations may overlap with those of other craniofacial dysostosis; therefore, precise knowledge is essential in differential diagnosis as it may affect the treatment outcome. Here, we report three cases with typical clinical and radiological features, among which one presented with osteomyelitis of the mandible.
PubMed: 38882744
DOI: 10.4103/jpbs.jpbs_1203_23 -
Radiology Case Reports Aug 2024Spondylocostal dysostosis (Jarcho Levin syndrome) is a rare costovertebral malformation syndrome that will result in restrictive pulmonary physiology. It manifests its...
Spondylocostal dysostosis (Jarcho Levin syndrome) is a rare costovertebral malformation syndrome that will result in restrictive pulmonary physiology. It manifests its major components at birth. Split cord malformation, together with spondylocostal dysostosis, is even rarer. We hereby report our experience with diagnosing 1 infant with spondylocostal dysostosis and type II split cord malformation using computed tomography and magnetic resonance imaging. We also present a concise summary of previously published case reports and case series involving patients with concurrent spondylocostal dysostosis and split cord malformations.
PubMed: 38860271
DOI: 10.1016/j.radcr.2024.04.095 -
Annals of Plastic Surgery Jun 2024Accessing treatment at ACPA (American Cleft Palate-Craniofacial Association)-approved centers is challenging for individuals in rural communities. This study aims to...
Accessing treatment at ACPA (American Cleft Palate-Craniofacial Association)-approved centers is challenging for individuals in rural communities. This study aims to assess how pediatric plastic surgery outreach clinics impact access for patients with orofacial cleft and craniosynostosis in Mississippi. An isochrone map was used to determine mean travel times from Mississippi counties to the sole pediatric hospital and the only ACPA-approved team in the state. This analysis was done before and after the establishment of two outreach clinics to assess differences in travel times and cost of travel to specialized plastic surgery care. Two sample t-tests were used for analysis.The addition of outreach clinics in North and South Mississippi led to a significant reduction in mean travel times for patients with cleft and craniofacial diagnoses across the state's counties (1.81 hours vs 1.46 hours, P < 0.001). Noteworthy travel cost savings were observed after the introduction of outreach clinics when considering both the pandemic gas prices ($15.27 vs $9.80, P < 0.001) and post-pandemic prices ($36.52 vs $23.43, P < 0.001).The addition of outreach clinics in Mississippi has expanded access to specialized healthcare for patients with cleft and craniofacial differences resulting in reduced travel time and cost savings for these patients. Establishing specialty outreach clinics in other rural states across the United States may contribute significantly to reducing burden of care for patients with clefts and craniofacial differences. Future studies can further investigate whether the inclusion of outreach clinics improves follow-up rates and surgical outcomes for these patients.
Topics: Humans; Mississippi; Cleft Palate; Health Services Accessibility; Cleft Lip; Craniosynostoses; Plastic Surgery Procedures; Community-Institutional Relations; Male; Child; Travel
PubMed: 38857000
DOI: 10.1097/SAP.0000000000003958 -
Medicine Jun 2024Crouzon syndrome is an extremely rare craniofacial dysplasia, which is mainly caused by the early ossification and closure of the coronal suture of the skull.... (Review)
Review
RATIONALE
Crouzon syndrome is an extremely rare craniofacial dysplasia, which is mainly caused by the early ossification and closure of the coronal suture of the skull. Craniofacial deformities can cause stenosis of the nasal cavity and posterior nasal meatus, resulting in sleep apnea.
PATIENT CONCERNS
A 9-year-old boy with sleep snoring for 6 years, progressive aggravation in the past 1 month and accompanied by apnea during sleep.
DIAGNOSES
This case was diagnosed with Crouzon syndrome complicated with severe obstructive sleep apnea and severe hypoxemia.
INTERVENTIONS
After adenoidectomy, he was admitted to the pediatric intensive care unit with ventilator-assisted respiration. During this period, the blood oxygen saturation fluctuated greatly. After trying to extubate, the blood oxygen was difficult to maintain and had to be intubated again. After active treatment, extubation was successful.
OUTCOMES
The wound of nasopharynx recovered well and the sleep state was significantly improved 3 months postoperation.
LESSONS
It is suggested that the time of ventilator-assisted breathing should be prolonged and the perioperative airway management should be strengthened in order to reduce the risk of postoperative complications.
Topics: Child; Humans; Male; Adenoidectomy; Craniofacial Dysostosis; Respiration, Artificial; Sleep Apnea, Obstructive
PubMed: 38847734
DOI: 10.1097/MD.0000000000038534 -
Neuron Jun 2024In a recent issue of Nature, Chen and colleagues reveal the potential for antisense oligonucleotides (ASOs) to rescue the neuropathological mechanisms underlying Timothy...
In a recent issue of Nature, Chen and colleagues reveal the potential for antisense oligonucleotides (ASOs) to rescue the neuropathological mechanisms underlying Timothy syndrome (TS) using three-dimensional neuronal models. Combining in vitro and in vivo approaches, the authors present a strategy to translate disease biology findings into potential therapeutics.
Topics: Humans; Neurons; Autistic Disorder; Long QT Syndrome; Syndactyly; Oligonucleotides, Antisense; Animals
PubMed: 38843779
DOI: 10.1016/j.neuron.2024.05.016 -
BMJ Case Reports Jun 2024Goldenhar syndrome, also recognised as oculo-auriculo-vertebral spectrum, is a very rare condition distinguished by a diverse array of clinical abnormalities affecting...
Goldenhar syndrome, also recognised as oculo-auriculo-vertebral spectrum, is a very rare condition distinguished by a diverse array of clinical abnormalities affecting the ocular, auditory, vertebral and various organ systems. The pathophysiology of this condition is not fully elucidated due to its inherent genetic variability and rarity. In this report, we present a case of Goldenhar syndrome in a toddler boy, aiming to enhance the existing body of literature on this condition.
Topics: Humans; Goldenhar Syndrome; Male; Child, Preschool
PubMed: 38839403
DOI: 10.1136/bcr-2024-259872 -
BMJ Case Reports Jun 2024
Topics: Humans; Orofaciodigital Syndromes; Male; Female; Magnetic Resonance Imaging
PubMed: 38839402
DOI: 10.1136/bcr-2024-260264