Clinical Dysmorphology最新文献

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

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

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

A de-novo frameshift variant in ZFHX4 associated with a recognisable neurodevelopmental disorder: a case report. ZFHX4基因的去新生移码变异与可识别的神经发育障碍相关：一份病例报告

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-07-07 DOI: 10.1097/MCD.0000000000000534

Himanshu Goel, Sheridan O'Donnell

引用次数: 0

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder. 小脑面碘综合征的产前和产后表现：一种罕见的遗传疾病。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-07-03 DOI: 10.1097/MCD.0000000000000535

Gayatri Nerakh, Rachana Rd, Sahitya Gurram

{"title":"Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.","authors":"Gayatri Nerakh, Rachana Rd, Sahitya Gurram","doi":"10.1097/MCD.0000000000000535","DOIUrl":"10.1097/MCD.0000000000000535","url":null,"abstract":"Introduction: Cerebellofaciodental syndrome (CFDS) (OMIM# 616202) is an autosomal recessive neurodevelopmental disorder with an incidence of one in 10 000 000. To date, only 15 cases have been reported in the literature. It is characterized by dysmorphic features, microcephaly, short stature, intellectual disability, and central nervous system anomalies.Case report: Here, we describe a case presenting with short long bones, restricted limb movements, and growth restriction during the antenatal period. After birth, the infant exhibited facial dysmorphism, microcephaly, a bell-shaped thorax, short extremities, brachydactyly, clinodactyly, and a short penis. The clinical features were suggestive of skeletal dysplasia or BRF1-related syndromes.Results: Whole exome sequencing identified a homozygous pathogenic missense variant, c.875C>G (p.Pro292Arg), in the BRF1 gene (NM_001519.4), confirming a diagnosis of CFDS.Conclusion: This case highlights the phenotypic overlap between CFDS and Roberts syndrome, emphasizing the need for a better delineation of the disease's genotypic and phenotypic spectrum. It also underscores that growth failure can be evident before the onset of neurodevelopmental abnormalities and characteristic facial features.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"111-116"},"PeriodicalIF":0.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627646","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

Traboulsi syndrome involving aortopathy: further evidence of the phenotypic overlap with Marfan syndrome. 包括主动脉病变的Traboulsi综合征：与马凡氏综合征表型重叠的进一步证据。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-07-03 DOI: 10.1097/MCD.0000000000000533

Martin A McClatchey, Jennifer F Gardner

引用次数: 0

First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother. 首例stag2相关综合征性疾病的报告，由部分外显子缺失遗传自无症状的马赛克携带者母亲。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2025-10-01 Epub Date: 2025-07-15 DOI: 10.1097/MCD.0000000000000537

Joshua C K Chan, Tracy C H Wong, Chung-Yin Mo, Sharon T H Fung, Timothy H T Cheng, Shirley S W Cheng, Ho-Ming Luk

引用次数: 0

Familiar case of a small TBC1D24 and ATP6V0C -containing microdeletion associated with developmental delay, microcephaly, and seizures. 熟悉的小TBC1D24和atp6v0c含微缺失与发育迟缓，小头畸形和癫痫发作相关的病例。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-03-12 DOI: 10.1097/MCD.0000000000000525

Catarina Macedo, Raquel Rodrigues, José Paulo Monteiro, Ana Sousa, Ana Berta Sousa, Mariana Soeiro E Sá

引用次数: 0