Clinical Dysmorphology最新文献_第4页

STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report. STAG1发育障碍伴急性淋巴细胞白血病1例

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2026-01-22 DOI: 10.1097/MCD.0000000000000551

Naveed Hussain, Charlotte A Sherlaw-Sturrock, Lorraine Hartles-Spencer, Thalia Antoniadi, Zena Lam, Nicola S Cooper

引用次数: 0

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. 1例新生染色体8.9 Mb 11qter重复和6.4 Mb 11qter缺失，来自正常核型的父亲。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2026-02-05 DOI: 10.1097/MCD.0000000000000550

Pattima Pakhathirathien, Hathaipat Vaseenon, Weerin Thammachote, Chayanist Songpatanasilp, Praweena Sinpitak, Chintana Tocharoentanaphol, Natini Jinawath, Duangrurdee Wattanasirichaigoon

{"title":"A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype.","authors":"Pattima Pakhathirathien, Hathaipat Vaseenon, Weerin Thammachote, Chayanist Songpatanasilp, Praweena Sinpitak, Chintana Tocharoentanaphol, Natini Jinawath, Duangrurdee Wattanasirichaigoon","doi":"10.1097/MCD.0000000000000550","DOIUrl":"10.1097/MCD.0000000000000550","url":null,"abstract":"Objectives: To determine the cause of marked hypotonia and neonatal encephalopathy, mild anemia and thrombocytopenia, and nonspecific facial dysmorphism in a neonate after extensive neurological and biochemical evaluations, and karyotyping failed to establish the etiology.Methods: Whole exome sequencing (WES), single-nucleotide polymorphisms chromosomal microarray (SNPs CMA), and fluorescence in-situ hybridization (FISH) analysis were performed in the patient and the parents.Results: WES did not show a candidate gene/diagnosis. Trio-CMA and FISH confirmed a de novo 8.9 Mb duplication of 11p15.4p15.5 and a 6.4 Mb deletion of 11q24.3q25 in the child, and that the duplicated 11p was of paternal origin, based on the SNPs analysis. On long-term follow-up, encephalopathy improved gradually, thrombocytopenia resolved, facial puffiness persisted, and developmental delay remained. The present patient represents the first case of de novo 11p duplication with 11q deletion and severe neonatal encephalopathy. The de novo chromosomal rearrangement could still have resulted from nonallelic homologous recombination, triggered by low-copy repeats (LCRs) at distal 11p and 11q during paternal meiosis, despite the lower LCR density. Alternatively, it may represent a random event, as it does not involve the recurrent deletion/duplication typically observed in regions with dense LCRs.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"63-70"},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12931855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fontaine progeroid syndrome into early adolescence: a case report. 青春期早期方丹性类早衰综合征1例报告。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2026-01-22 DOI: 10.1097/MCD.0000000000000553

Rani Manisha, Mayank Nilay, Varunvenkat M Srinivasan, Pradeep Rikhari

引用次数: 0

Management of a four-generation family affected by GDF6 multiple synostoses syndrome type 4. 4型GDF6多发性滑膜紧闭综合征家族四代患者的治疗

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2025-12-17 DOI: 10.1097/MCD.0000000000000548

Edward Steel, Jonathan Wright, Rachel Coles

引用次数: 0

Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum. 沙特患者Rafiq综合征：新的纯合MAN1B1变异（c.1118C>G; p.Pro373Arg）和扩大的表型谱

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2025-11-18 DOI: 10.1097/MCD.0000000000000543

Zuhair Rahbeeni, Munirah AlSalman, Saad AlHamoudi

引用次数: 0

Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder. 其他病例报告支持功能丧失的CCNK变异是可识别的综合征性神经发育障碍的病因。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2026-02-09 DOI: 10.1097/MCD.0000000000000554

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

引用次数: 0

Exploring ATP6V1B2 -related disorders: a case report-based literature review. 探索atp6v1b2相关疾病：基于病例报告的文献综述

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2025-12-25 DOI: 10.1097/MCD.0000000000000549

Tsz Ching Nadine Ma, Fong Ying Connie Shih, Min Ou, Kwan Wai Phoebe Wu, Wing Chung Yiu, Stephanie Ka Lun Ho, Sze Wing Shirley Cheng, Ho Ming Luk

引用次数: 0

Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies. 一对印度兄弟姐妹的复发性RAC3相关神经-脊柱病有新的发现：扩大了大脑异常的频谱。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-09-17 DOI: 10.1097/MCD.0000000000000540

Gayatri Nerakh, Prashanth Rao Dhareneni, Udhaya Kotecha

{"title":"Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies.","authors":"Gayatri Nerakh, Prashanth Rao Dhareneni, Udhaya Kotecha","doi":"10.1097/MCD.0000000000000540","DOIUrl":"10.1097/MCD.0000000000000540","url":null,"abstract":"Objective: The Rho GTPase gene family plays a crucial role in key cellular functions. RAC3, one of the three genes in this family, along with RAC1 and RAC2, is highly expressed in the brain. It is specifically involved in neuronal differentiation, maturation, and migration. Therefore, dysregulation of RAC3 can lead to neurodevelopmental abnormalities.Methods: Here we report two siblings, born to a nonconsanguineous couple, with global developmental delay, intellectual disability, and facial dysmorphism.Results: Whole exome sequencing revealed a pathogenic heterozygous variant, c.184G>A (p.Glu62Lys), in exon 3 of the RAC3 gene [NM_005052.3], which is associated with neurodevelopmental disorder (NDD) with structural brain anomalies and dysmorphic facies.Conclusion: RAC3-associated disorder should be considered as a differential diagnosis in children with NDDs and characteristic facial dysmorphism, including arched eyebrows, hypertelorism, and prominent eyes, along with central nervous system abnormalities. In our cases, we observed novel MRI brain findings that had not been previously reported, thereby expanding the spectrum of brain anomalies associated with this condition.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"1-6"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460620","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

Recurrent herpes labialis in a patient with interferon regulatory factor 3 deletion: a novel case report. 复发性唇疱疹患者干扰素调节因子3缺失：一个新的病例报告。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-09-22 DOI: 10.1097/MCD.0000000000000539

Nawab Ali, Caoimhe McKenna, June Jones, Louise Rauch, Lynne Speirs, James Hughes, Gillian Rea

引用次数: 0

A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review. 摩洛哥患者罕见的马赛克单体21病例：临床发现和系统回顾的见解。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-01-01 Epub Date: 2025-09-25 DOI: 10.1097/MCD.0000000000000545

Amal Ouskri, Abdelhamid Bouramtane, Rania Bouchikhi, Yasser Ali El Asri, Saadia Amasdl, Laila Smaili, Laila Bouguenouch, Karim Ouldim

{"title":"A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review.","authors":"Amal Ouskri, Abdelhamid Bouramtane, Rania Bouchikhi, Yasser Ali El Asri, Saadia Amasdl, Laila Smaili, Laila Bouguenouch, Karim Ouldim","doi":"10.1097/MCD.0000000000000545","DOIUrl":"10.1097/MCD.0000000000000545","url":null,"abstract":"Introduction and objective: Complete monosomy 21 is a rare and lethal chromosomal disorder, with fewer than 50 cases reported. Its mosaic form is the only viable presentation, yet the full phenotypic spectrum remains poorly understood, prompting this work to expand clinical and cytogenetic insights.Methods: We report the first genetically confirmed African case in a female infant referred for genetic testing because of distinctive dysmorphic features. Blood karyotype revealed 45,XX,-21[2]/46,XX[28] mosaicism, and fluorescence in-situ hybridization showed 15 and 25% mosaicism in blood and buccal cells, respectively. A systematic literature review identified 23 previously reported cases, including nine isolated and 14 with additional chromosomal abnormalities.Results: The average maternal age was 27.5 years, unlike trisomy 21, where advanced maternal age is a major risk factor. Clinical manifestations include microcephaly, craniofacial dysmorphism, and congenital heart defects, with more severe phenotypes in complex cases. Hematological anomalies vary, with anemia in isolated and thrombocytopenia in complex cases. Notably, our patient displayed previously unreported peripheral hypothyroidism. The correlation between mosaicism levels and clinical severity remains unclear, highlighting the need for multi-tissue analyses.Conclusion: TThis study expands current knowledge of mosaic monosomy 21 and emphasizes the value of detailed cytogenetic assessment and phenotypic characterization to better define its clinical spectrum.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"15-27"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460569","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