American Journal of Medical Genetics Part A最新文献_第3页

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms. 成人努南综合征和努南综合征伴多小体的神经性疼痛和神经肿大：与健康相关的生活质量和神经症状

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-01-20 DOI: 10.1002/ajmga.70060

Jos M T Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C Voermans, Nens van Alfen

{"title":"Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.","authors":"Jos M T Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C Voermans, Nens van Alfen","doi":"10.1002/ajmga.70060","DOIUrl":"10.1002/ajmga.70060","url":null,"abstract":"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 significant problem. This pain is likely multifactorial in origin, with a significant contribution from neuropathic mechanisms. Patients with NS also have a high chance of having multifocally enlarged nerves, and sometimes show clinical features of neuropathy. The relationship between these nerve findings, pain, health-related quality of life and neurological symptoms remains unclear. This case series aims to provide more insight into the perceived health-related quality of life and neurological symptoms in nine adults with NS or NSML who reported neuropathic pain and had enlarged nerves. Features of some of these patients were already reported in an earlier article. The perceived health-related quality of life was markedly below average. All patients reported somatosensory symptoms consistent with peripheral neuropathy. Six of nine patients reported muscle weakness. Sensory testing was abnormal in five patients, but muscle strength was normal in all patients. Electrodiagnostic testing was consistent with peroneal neuropathy in one patient, muscle and nerve ultrasound imaging confirmed neuromuscular involvement in five of the six patients who reported muscle weakness. No muscle ultrasound imaging was performed in the sixth patient. This study thus shows that adults with NS and NSML with neuropathic pain and enlarged nerves have a significantly impaired perceived health-related quality of life with a variable clinical neurologic phenotype.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1442-1451"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146008598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant. 从多种先天性异常到垂体畸形：FOXA2变异家族的广泛临床特征。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-02-16 DOI: 10.1002/ajmg.a.70089

Christopher Connolly, Hemant A Parmar, Lauren Hipp, Tomoyasu Higashimoto

{"title":"From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant.","authors":"Christopher Connolly, Hemant A Parmar, Lauren Hipp, Tomoyasu Higashimoto","doi":"10.1002/ajmg.a.70089","DOIUrl":"10.1002/ajmg.a.70089","url":null,"abstract":"FOXA2 (hepatocyte nuclear factor-3β, HNF-3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 which encompassed the FOXA2 gene were reported. With improvement in molecular diagnosis, patients with variants in FOXA2 genes have more recently been described with pituitary dysfunction, hypoglycemia, craniofacial, and/or endoderm-derived organ malformations; however, they are still rare. Here, we report a family who experienced fetal loss due to multiple congenital anomalies identified with FOXA2 gene, NM_021784.5(FOXA2):c.429C>A (p.Tyr143Ter). Further segregation analysis of this variant identified the presence of the same variant in the father of the fetus, who himself had a history of growth hormone deficiency and pituitary malformation. We report for the first time the varying degrees of severity of disorder most likely attributed to variant in FOXA2 gene within the same family.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1452-1457"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146199852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young. 儿童DeSanto-Shinawi综合征和多形低级别神经上皮肿瘤的首次报道。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-02-17 DOI: 10.1002/ajmg.a.70085

Selene Cipri, Antonella Cacchione, Emanuele Agolini, Daniela Verrigni, Antonio Novelli, Chiara Pepi, Luca De Palma, Alessandro De Benedictis, Andrea Carai, Sabina Barresi, Sabrina Rossi, Rita Alaggio, Giovanna Stefania Colafati, Claudia D'Orazio, Luigi Boccuto, Angela Mastronuzzi

{"title":"First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young.","authors":"Selene Cipri, Antonella Cacchione, Emanuele Agolini, Daniela Verrigni, Antonio Novelli, Chiara Pepi, Luca De Palma, Alessandro De Benedictis, Andrea Carai, Sabina Barresi, Sabrina Rossi, Rita Alaggio, Giovanna Stefania Colafati, Claudia D'Orazio, Luigi Boccuto, Angela Mastronuzzi","doi":"10.1002/ajmg.a.70085","DOIUrl":"10.1002/ajmg.a.70085","url":null,"abstract":"Loss-of-function variants in the WW Domain Containing Adaptor with Coiled-Coil (WAC) gene are associated with DeSanto-Shinawi syndrome (DESSH), a rare autosomal dominant neurodevelopmental disorder usually with onset characterized by global developmental delay appearing in infancy or early youth, intellectual disability, seizures, autism spectrum disorder, attention-deficit/hyperactivity disorder, hypotonia, dysmorphic features at the level of the skull and face. The protein encoded by the WAC gene links and regulates gene transcription and monoubiquitination of histone H2B to \"Lys-120\" (H2BK120ub1). It also acts in the regulation of cell cycle checkpoint activation in response to DNA damage, and the RING finger 20/40 (RNF20/40)/WAC complex has been proven to act as an interactor with p53. We describe a 15-year-old boy with a diagnosis of DESSH associated with a WAC variant and a polymorphous low-grade neuroepithelial tumor of the young associated with an FGFR2(ex17):INA(ex2) fusion. In addition, two germinal likely pathogenic variants have been identified in the Neurofibromin 1 (NF1) and succinate dehydrogenase complex flavoprotein subunit A (SDHA) genes. Our data suggest a possible additional role of the WAC variant in early tumor development, highlighting the importance of oncogenetic testing in patients with rare neurodevelopmental syndromes and brain tumors.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1411-1417"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146206755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China. 中国东部地区胎儿泌尿生殖系统异常的遗传异常及临床处理。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-02-22 DOI: 10.1002/ajmg.a.70094

Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai

{"title":"Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China.","authors":"Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai","doi":"10.1002/ajmg.a.70094","DOIUrl":"10.1002/ajmg.a.70094","url":null,"abstract":"To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty-five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing (CNV-seq) or chromosomal microarray analysis (CMA), and trio-exome sequencing (trio-ES), and received long-term follow-ups from 6 months to 7 years. The top five GU anomalies were hydronephrosis, renal agenesis, multicystic dysplastic kidney, genital cysts, and genital abnormalities. 4.77% (19/398) of chromosomal abnormalities were detected by karyotyping, and 39 CNVs were revealed in 354 cases by CNV-seq/CMA simultaneously, with 6.50% (23/354) of additional CNVs. Genetic abnormalities were more frequent in reproductive system anomalies, nonisolated, and multiple GU anomalies. Two of eight with pathogenic/likely pathogenic genes were additionally detected. Five hundred thirty-four pregnancy outcomes were obtained, including 418 (76.70%) live births with favorable outcomes, two (0.37%) intrauterine fetal deaths, and 114 (20.92%) terminations mainly due to genetic abnormalities or nonisolated anomalies. The fetuses with reproductive system anomalies, nonisolated, and multiple GU anomalies were associated with genetic abnormalities. Therefore, a closed-loop management strategy including \"diagnosis-assessment-intervention-follow-up\" should be provided for fetuses with GU anomalies from pregnancy to postpartum period.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1362-1371"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147269477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure. 快速外显子组测序对心肌病和急性心力衰竭患儿的影响。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-01-22 DOI: 10.1002/ajmga.70065

Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben-Ari, Danny Eytan, Tamar Paperna, Karin Weiss

{"title":"Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure.","authors":"Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben-Ari, Danny Eytan, Tamar Paperna, Karin Weiss","doi":"10.1002/ajmga.70065","DOIUrl":"10.1002/ajmga.70065","url":null,"abstract":"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 failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center. A total of nine patients were included; age range: 5 days-11 years (median 42 days). Eight patients (88.8%) presented in the first year of life. The turnaround time for the ES results was 5-14 days (median 9 days). The diagnostic yield was 5/9 (55.5%), confirming primary cardiomyopathy. The majority had dominant disorders (ACTC1, MYBCP3, TNNI3, and NKX2-5), with two (22.2%) occurring de novo. One patient had a recessive condition (MYBPC3). In three patients (33.3%) who rapidly deteriorated during hospitalization, ES results had a major impact on immediate medical management. In most patients, the diagnosis led to the avoidance of further metabolic workup, cardiac magnetic imaging and vitamin treatment. In two families with no prior history of cardiomyopathy, at-risk relatives were advised to initiate cardiac surveillance. Overall the results show high clinical impact due to a shorter time to diagnosis, a high diagnostic yield, an improved therapeutic approach, in addition to the facilitation of genetic counseling for family planning and cascade testing of relatives at risk.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1222-1230"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146028033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York. 首届ReNU希望会议和科学研讨会总结，2025年7月23日至25日，纽约长岛。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-02-19 DOI: 10.1002/ajmg.a.70098

Kelsey Crocker, Jillian O'Toole, Lindsay Pearse, Jessica Margrill, Asbaa Khan, Maya Chopra, A Micheil Innes, Heather Kainz, Heather Margrill, Kim Salazar, Lauren Schwarze, Ian D Krantz

引用次数: 0

Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene. 印度1型神经纤维瘤病患者的表型谱和NF1基因微缺失的低流行率

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-02-05 DOI: 10.1002/ajmga.70073

Ravneet Kaur, Madhumita Roy Chowdhury, Sandeepa Chauhan, Neerja Gupta, Atin Kumar, Savita Sapra, Devi Saranya S, Madhulika Kabra

引用次数: 0

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia. 一种与震颤和肌张力障碍相关的新的功能获得性ITPR1变异。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-02-06 DOI: 10.1002/ajmga.70069

Emilie T Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D M Van Karnebeek, Cornelius F Boerkoel, Stephanie Huynh, Gabriella Horvath, S R Wayne Chen, Anna Lehman

{"title":"A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.","authors":"Emilie T Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D M Van Karnebeek, Cornelius F Boerkoel, Stephanie Huynh, Gabriella Horvath, S R Wayne Chen, Anna Lehman","doi":"10.1002/ajmga.70069","DOIUrl":"10.1002/ajmga.70069","url":null,"abstract":"The 1,4,5-trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss-of-function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain-of-function mutation in the highly conserved suppressor domain of ITPR1 has been previously reported. We report a novel de novo ITPR1 variant (p.(Tyr131His)) detected by whole genome sequencing in a child with an unexplained movement disorder, characterized by tremor and dystonia, concurrent with a second diagnosis of Myhre syndrome. The proband's movement disorder characteristics share much overlap with previously reported individuals with suppressor domain variants; however, she does not have ataxia. We provide functional evidence of this variant's gain-of-function consequence via in vitro experiments of inositol 1,4,5-triphosphate-mediated calcium release. Our findings deepen the knowledge of ITPR1-mediated movement disorders, expanding the phenotypic spectrum to include movement disorders without ataxia.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1261-1266"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146130966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review. 基于11个中国家系的foxl2相关性眼睑下垂-内眦赘肉倒置综合征的遗传和临床特征及文献综述

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-01-19 DOI: 10.1002/ajmga.70058

Yijun Dong, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Qingjiong Zhang, Zhen Yi

{"title":"Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.","authors":"Yijun Dong, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Qingjiong Zhang, Zhen Yi","doi":"10.1002/ajmga.70058","DOIUrl":"10.1002/ajmga.70058","url":null,"abstract":"Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), caused by FOXL2 variants, has been divided into two subtypes by eyelid abnormalities with (BPES-I) or without (BPES-II) primary ovarian insufficiency (POI). This study investigated the genetic and phenotypic characteristics of FOXL2-associated BPES and their genotype-phenotype correlations. FOXL2 variants were identified by in-house next-generation sequencing and compared with public databases. Clinical features were also summarized. Eleven FOXL2 variants, including four novel, were detected in 11 families from our cohort. Based on literature, 273 FOXL2 pathogenic/likely pathogenic variants were reviewed in 650 patients from 548 families. Nearly half (47.6%, 130/273) of the variants were truncation. The most frequent (24.0%, 132/549) variant was p.A225_A234dup. In the polyalanine tract, variants leading to the deletion of 1-10 or expansion/insertion of 2 alanine residues were likely benign, whereas variants causing the expansion/insertion of 10-15 alanine residues were pathogenic. The proportion of truncation variants was significantly higher in patients with BPES-I (73.8%, 48/65) than in those with BPES-II (19.6%, 19/97). In conclusion, the pathogenicity of in-frame variants within the polyalanine tract was associated with the number of polyalanine residues. Truncation variants were frequently linked to the severe phenotype (BPES-I), highlighting their potential value in clinical diagnosis and patient management, particularly for preventing or treating POI.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1204-1214"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146002879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice. 扩大对KBG综合征患者骨骼异常的评估：临床实践建议。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2026-06-01 Epub Date: 2026-02-12 DOI: 10.1002/ajmga.70080

Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M Klein, Charlotte W Ockeloen, Joyce M Geelen

{"title":"Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.","authors":"Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M Klein, Charlotte W Ockeloen, Joyce M Geelen","doi":"10.1002/ajmga.70080","DOIUrl":"10.1002/ajmga.70080","url":null,"abstract":"KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies. Although skeletal anomalies are reported in about 75% of cases, their nature and extent in relation to growth are largely unknown. Therefore, this study aims to asses the prevalence of skeletal anomalies in KBG syndrome and explore whether there is a relationship with short stature. This retrospective cohort study includes patients with a confirmed diagnosis of KBG syndrome, with available radiographic images at the Radboud University Medical Center. The radiographs were re-evaluated by a radiologist focusing on the presence of spinal, costal, vertebral, and hand anomalies using standardized radiological criteria. In our cohort of 38 persons with KBG syndrome, 92% show skeletal anomalies on radiographic imaging. The most frequent observations on the radiographs were spinal anomalies (74%) and costal anomalies (40%). Specifically, lordosis (36%) had the highest prevalence. Patients with short stature (n = 14) showed higher prevalences of kyphosis and delayed skeletal age. In conclusion, this study demonstrates a high prevalence and broad variety of skeletal anomalies in individuals with KBG syndrome.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1306-1314"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146177266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0