Identification of a Novel TBCK Variation in an Azari Consanguineous Family With Psychomotor Developmental Disorder [0.03%]
在阿扎里近亲婚配的家庭中识别出一种新的TBCK变异与心理运动发育障碍的关系
Sara Arish,Ramiz Nobakht,Haleh Mokabber et al.
Sara Arish et al.
TBC1 domain-containing kinase (TBCK; MIM #616900) is implicated in autosomal recessive neurodevelopmental disorders with hypotonia and developmental delay. TBCK regulates mTOR signaling, lysosomal activity, and intracellular trafficking, bu...
Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome [0.03%]
STAMBP相关微小脑症-毛细血管畸形综合征表型的扩展
Vykuntaraju K Gowda,Amaresh Roy,B Disha et al.
Vykuntaraju K Gowda et al.
Biallelic variants in the STAMBP gene are known to cause Microcephaly-capillary malformation syndrome (MICCAP syndrome). Here we report an 18-month-old female with a novel splice site variant, c.376-1G>A in intron-4, with the phenotype of a...
Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor [0.03%]
由于血管性血友病因子减少导致的希特里克-淋巴水肿-telangiectasia综合征相关出血素质
Miyako Kanno,Hiroko Sato,Yuta Uemura et al.
Miyako Kanno et al.
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a congenital disorder characterized by lymphedema, telangiectasia, and hypotrichosis or alopecia, caused by mutations in the SRY-related high-mobility group box (SOX) 18 gene. We re...
Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome [0.03%]
科斯特洛综合征患者的广泛神经行为表型特征
Millicent S Curlee,Atara Siegel,Paige Little et al.
Millicent S Curlee et al.
Costello syndrome (CS) is a rare RASopathy that is typically associated with mild to moderate cognitive impairment. Based on detailed neuropsychological testing, this case series describes variability in the neurobehavioral presentations of...
Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil [0.03%]
巴西由于PIEZO2基因变异导致的马登-沃克综合征的基因型-表型相关性扩展的一个病例报告
Guilherme Sotto Battiston,Carolina de Souza Araujo,Fernanda Araujo Romera et al.
Guilherme Sotto Battiston et al.
Marden-Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagno...
Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant [0.03%]
布加达综合征SCN5A(c.689T>C)杂合突变携带者的新临床意义
Shayla Shojaat,Benjamin Hale,Taylor Warner
Shayla Shojaat
Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease-causing only in homozygous individuals, with...
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure [0.03%]
外显子组快速测序对儿科心肌病及急性心力衰竭患者的临床影响分析
Tameemi Abdalla Moady,Tova Hershkovitz,Clair Habib et al.
Tameemi Abdalla Moady et al.
Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failur...
Maria Barington,Marie Balslev-Harder,Thomas Krag et al.
Maria Barington et al.
Congenital myopathy-14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypoto...
Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms [0.03%]
Noonan综合征和带有多个 lentigines 的Noonan 综合征的神经病理性疼痛和成人周围神经肿大：与健康相关的生活质量和神经系统症状
Jos M T Draaisma,Wesley Reintjes,Erika Leenders et al.
Jos M T Draaisma et al.
Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically si...
Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population [0.03%]
儿科唐氏综合症诊所对患者群体中的乳糜泻诊断的影响
Francis Hickey,Kristine Wolter-Warmerdam,Liz Maastricht et al.
Francis Hickey et al.
The pediatric Down syndrome (DS) clinic model improves medical care access and treatment; however, evidence-based outcomes of this model implementing routine screening are not well documented. Our goal was to evaluate the impact of the pedi...