Clinical Dysmorphology最新文献_第5页

Novel homozygous GCH1 variant causes tetrahydrobiopterin-deficient hyperphenylalaninemia. 新的纯合子GCH1变异引起四氢生物蝶素缺乏高苯丙氨酸血症。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-09-17 DOI: 10.1097/MCD.0000000000000546

Mohammad Y Asees, Ayoub Salameh Rezeq, Hadeel Mohammad Abaas, Mohammad Riyad Alkirim, KeerthanaKumari Satish, Handhvinahalli Naganna Rachanashree, Akila Prashant, Prince Jacob

引用次数: 0

Pediatric epilepsy: a dual diagnosis of SCMARCA2 -Nicolaides-Baraitser syndrome and CHRNB2 -nocturnal-frontal-lobe epilepsy. 小儿癫痫：SCMARCA2-Nicolaides-Baraitser综合征和chrnb2 -夜间额叶癫痫的双重诊断。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-09-25 DOI: 10.1097/MCD.0000000000000544

Emma B Cardwell, Jennifer M Mathews, Clara C Hildebrandt

引用次数: 0

USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review. USP18基因突变与复发性脑病、颅内钙化和小头畸形相关：病例报告、长期随访和文献复习

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-08-15 DOI: 10.1097/MCD.0000000000000538

Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Archana Varghese, Uddhava V Kinhal, Himani Pandey, Devi Lal

{"title":"USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review.","authors":"Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Archana Varghese, Uddhava V Kinhal, Himani Pandey, Devi Lal","doi":"10.1097/MCD.0000000000000538","DOIUrl":"10.1097/MCD.0000000000000538","url":null,"abstract":"Introduction: Pseudo-TORCH syndrome type 2 is a rare autosomal recessive disorder caused by biallelic variants in the USP18 gene. Clinically, affected individuals exhibit multisystem involvement, including intracranial calcification (ICC) and haemorrhage, seizures, hepatosplenomegaly, and thrombocytopenia. To date, only 11 cases have been reported in the literature.Case report: We report a case of an Indian girl child born to consanguineous parents, presenting with recurrent febrile encephalopathy, developmental delay, microcephaly, tone abnormalities, organomegaly, thrombocytopenia, and ICCs. A similar clinical history was noted in the elder sibling who succumbed to the same illness.Results: Exome sequencing revealed a novel homozygous missense variant, c.358C>T (p.Pro120Ser), in exon four of the USP18 gene. Sanger sequencing of the asymptomatic parents confirmed heterozygosity of this variant.Conclusion: To our knowledge, this is the first reported case of USP18 -related disease presenting with recurrent febrile encephalopathy. Further studies are required to understand better the variable presentations associated with the disease.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"7-14"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Observed total and live birth prevalence of Wolf-Hirschhorn syndrome in England 2015-2020. 观察2015-2020年英国沃尔夫-赫希霍恩综合征的总患病率和活产患病率。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-09-19 DOI: 10.1097/MCD.0000000000000542

Oliver W J Quarrell, Ewoma Obaro, Alexander Thompson, Mark Strong, Corinne Mallinson, Jennifer M Broughan

{"title":"Observed total and live birth prevalence of Wolf-Hirschhorn syndrome in England 2015-2020.","authors":"Oliver W J Quarrell, Ewoma Obaro, Alexander Thompson, Mark Strong, Corinne Mallinson, Jennifer M Broughan","doi":"10.1097/MCD.0000000000000542","DOIUrl":"10.1097/MCD.0000000000000542","url":null,"abstract":"Background: Birth prevalence estimates for Wolf - Hirschhorn syndrome (WHS) are frequently quoted as either one in 50 000 or one in 20 000 to one in 50 000.Objective: To estimate the total birth and live birth prevalences of WHS in England between 2015 and 2020, and compare the results with previously published reports and data for common trisomies.Methods: Data on total births and live births were obtained from the English National Congenital Anomaly and Rare Disease Registration Service. Total births were live births plus stillbirths, miscarriages after 20 weeks, and termination of pregnancy.Results: There were 56 total births, resulting in 30 live births. Total birth prevalence was 2.16 per 100 000 [95% confidence interval (CI): 1.63-2.80 per 100 000], equivalent to one in 46 303 (95% CI: one in 35 656-one in 61 297). The live birth prevalence was 1.16 per 100 000 (95% CI: 0.78-1.66 per 100 000), equivalent to one in 86 092 (95% CI: one in 60 307-one in 127 601), consistent with an earlier UK study.Conclusion: We believe the frequently quoted WHS birth prevalence figures are an overestimate and recommend that birth prevalence figures are based on empirical data, with the nature of the numerator and denominator stated clearly.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"28-31"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of DYNC2H1 -related skeletal ciliopathy: consider comprehensive reanalysis and uncommon, usually filtered variants. dync2h1相关的骨骼肌纤毛病1例：考虑综合再分析和罕见的，通常过滤的变异。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-09-17 DOI: 10.1097/MCD.0000000000000541

Danitza Campos, Rosemarie Menke, Javiera Campos, Michelle Zeppelin, Luisa Herrera, Valentina Castillo, Pablo Alarcón-Arias, Amalia Laso, Rosa Pardo, Víctor Faúndes

引用次数: 0

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-04-29 DOI: 10.1097/MCD.0000000000000529

Chitra Gangadaran Ramalingam, Jiin Ying Lim, Jeannette Goh, Sylvia Kam, Hai Yang Law, Nur Afiqah Binte Mohd Mislan, Ivy Ng, Terrence Gerard Sundram Thomas, Weng Khong Lim, Sandra Sylvia Mascarenhas, Saumya Shekhar Jamuar

引用次数: 0

A new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome. 莫沃特-威尔逊综合征横纹肌肉瘤一例新病例。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-06-18 DOI: 10.1097/MCD.0000000000000530

Jeeva Jacob, Gerardo Quezada, Clara Hildebrandt

引用次数: 0

Amnioreduction as a therapeutic strategy for MAGED2 -related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management. 羊膜还原作为maged2相关Bartter综合征的治疗策略：通过遗传引导的产前管理延长妊娠和改善结局。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-07-07 DOI: 10.1097/MCD.0000000000000536

Xiaoxia Wu, Yang Liu, Caiqun Luo, Liyuan Chen, Xiushu Cao, Hui Wang

{"title":"Amnioreduction as a therapeutic strategy for MAGED2 -related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management.","authors":"Xiaoxia Wu, Yang Liu, Caiqun Luo, Liyuan Chen, Xiushu Cao, Hui Wang","doi":"10.1097/MCD.0000000000000536","DOIUrl":"10.1097/MCD.0000000000000536","url":null,"abstract":"Objective: MAGED2 -related Bartter syndrome is a rare X-linked disorder characterized by severe fetal polyuria, polyhydramnios, preterm birth, and increased perinatal morbidity. This study evaluates the efficacy of amnioreduction in prolonging gestation and improving outcomes in affected pregnancies.Methods: We analyzed three cases of severe polyhydramnios detected via prenatal ultrasound. Whole-exome sequencing (WES) was performed to identify causative mutations. Two cases underwent therapeutic amnioreduction, while the third received expectant management. Clinical outcomes, including gestational age at delivery and neonatal complications, were compared.Results: WES confirmed hemizygous MAGED2 mutations in all fetuses. The two cases treated with amnioreduction were delivered at 35 weeks 2 days and 37 weeks 1 day, respectively, with no severe neonatal complications. In contrast, the untreated case was delivered prematurely at 32 weeks and 6 days, resulting in transient brain damage requiring postnatal rehabilitation.Conclusion: Amnioreduction mitigates polyhydramnios-driven preterm birth in MAGED2 -related Bartter syndrome, enabling safer gestational prolongation. Integration of WES for rapid genetic diagnosis and multidisciplinary care optimizes prenatal management. These findings support amnioreduction as a critical intervention for this high-risk population, emphasizing early genetic testing, and proactive fetal therapy.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"117-121"},"PeriodicalIF":0.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus. 家族性sin3a相关的Witteveen-Kolk综合征在一个中国家族中有突出的外胚层发育不良、类早衰症和早发性糖尿病。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-06-30 DOI: 10.1097/MCD.0000000000000531

Joshua C K Chan, Lisa L P Siu, Stephanie K L Ho, Shirley S W Cheng, Ho-Ming Luk

引用次数: 0

A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype. 一个新病例Al Kaissi综合征在一个4岁的男孩：增加脑积水的意义和延长表型。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-06-26 DOI: 10.1097/MCD.0000000000000532

Haaziq Sheikh, Naveed Hussain, Ataf H Sabir

引用次数: 0