Clinical Dysmorphology最新文献

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 0.4 4区医学

Clinical Dysmorphology Pub 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":"https://doi.org/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":""},"PeriodicalIF":0.4,"publicationDate":"2025-07-07","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

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 0.4 4区医学

Clinical Dysmorphology Pub 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 0.4 4区医学

Clinical Dysmorphology Pub 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":"https://doi.org/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":""},"PeriodicalIF":0.4,"publicationDate":"2025-07-03","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 0.4 4区医学

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

Martin A McClatchey, Jennifer F Gardner

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

TUBB3 R262H in a neonate with ptosis and vocal cord palsy. TUBB3 R262H在新生儿上睑下垂和声带麻痹中的表达。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-05-28 DOI: 10.1097/MCD.0000000000000523

Edward Steel, Stergios Papakostas, Justin Cross, Sajeev Job

引用次数: 0

Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion. 1例因UBE2A缺失导致的x连锁智力残疾型Nascimento新生儿猝死

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-05-28 DOI: 10.1097/MCD.0000000000000526

Inês Furtado Gomes, Marta Martins, Bárbara Marques, Hildeberto Correia, Bruno Sanches

{"title":"Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion.","authors":"Inês Furtado Gomes, Marta Martins, Bárbara Marques, Hildeberto Correia, Bruno Sanches","doi":"10.1097/MCD.0000000000000526","DOIUrl":"10.1097/MCD.0000000000000526","url":null,"abstract":"Introduction: X-linked intellectual disability (XLID) type Nascimento is a rare genetic syndrome characterized by intellectual disability, craniofacial dysmorphisms, and congenital anomalies, including cardiac and urinary tract defects. It is caused by variants of the UBE2A gene.Methods: Description of a clinical case based on medical records; genetic testing through chromosomal microarray analysis. Literature review of relevant scientific articles concerning XLID type Nascimento and UBE2A/ UBE2A .Results: We describe the clinical and genetic characteristics of a neonate with a challenging presentation and fatal outcome with a 386 kb deletion in the Xq24 region encompassing UBE2A . Despite clinical and anatomopathological investigations, the definitive cause of death was not established. Study of the proband's asymptomatic mother confirmed maternal inheritance of the deletion. A total of 58 other cases have been described worldwide, with only one with a neonatal diagnosis; prevalent clinical characteristics matched the phenotype of our patient.Conclusion: Further research is needed to refine the clinical spectrum and elucidate genotype-phenotype correlations. Early clinical recognition might be possible and would allow for the timely diagnosis and genetic counseling of affected families. The present case is the first report of sudden infant death in a patient with UBE2A deficiency, underscoring the importance of clinician awareness for proactive management.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"63-67"},"PeriodicalIF":0.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744355","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

Case of de-novo variant in CDH2 with novel findings: a case report and review of literature. 一例新发现的CDH2从头变异体：病例报告和文献回顾。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-04-17 DOI: 10.1097/MCD.0000000000000528

Afiqah Binte Abdul Rahman, Jeannette Goh, Shermaine Chan, Sylvia Kam, Jonathan Tze Liang Choo, Yee Jim Loh, Audrey Wei Lin Chia, Angeline Hwei Meeng Lai, Weng Khong Lim, Saumya Shekhar Jamuar, Jiin Ying Lim

引用次数: 0

Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report. 患有新型PCDH12变异的两个兄弟姐妹的临床和神经影像学变异性：一个病例报告。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-05-28 DOI: 10.1097/MCD.0000000000000519

Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Amena Nayyer, Himani Pandey, Devi Lal

引用次数: 0

A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2. PPP2R1A中的一个新生错义变体Ser219Pro导致Houge-Janssens综合征2型的大头畸形。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-07-01 Epub Date: 2025-02-25 DOI: 10.1097/MCD.0000000000000522

Ana M Zarante-Bahamon, María C Cortés-Rojas, Jorge L Ramon-Gómez

引用次数: 0