Clinical Dysmorphology最新文献_第3页

Novel ROBO3 variants in two families with horizontal gaze palsy with progressive scoliosis: clinical characterization and brief literature overview of 14 reported families. 水平凝视性麻痹伴进行性脊柱侧凸两个家族的新型ROBO3变异：14个已报道家族的临床特征和简要文献综述

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-03-09 DOI: 10.1097/MCD.0000000000000558

Isra Zara Khalil, Sanna Waheed, Neeta Lakhani, Ataf Sabir

引用次数: 0

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases. 酰基辅酶a合成酶家族成员3相关的丙二酸和甲基丙二酸合并尿症的临床谱：来自4例的见解。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-05-27 DOI: 10.1097/MCD.0000000000000569

Sabire Gokalp, Hacer Basan, Asburce Olgac, Aynur Kucukcongar Yavas, Mustafa Kilic

{"title":"Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.","authors":"Sabire Gokalp, Hacer Basan, Asburce Olgac, Aynur Kucukcongar Yavas, Mustafa Kilic","doi":"10.1097/MCD.0000000000000569","DOIUrl":"10.1097/MCD.0000000000000569","url":null,"abstract":"Background: Acyl-conezyme A (CoA) synthetase family member 3 ( ACSF3 ) related combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism involving defective activation of malonic and methylmalonic acids to CoA derivatives. The resulting deficiency of malonyl-CoA disrupts mitochondrial fatty acid synthesis, lipid metabolism, and protein malonylation. Although regarded as a benign condition, studies have demonstrated that ACSF3 deficiency may lead to variable manifestations.Objective: This study aimed to expand the spectrum of ACSF3 -related CMAMMA.Methods: Four patients with biochemically and genetically confirmed ACSF3 -related CMAMMA were retrospectively analyzed for clinical, biochemical, neuroimaging, and molecular features.Results: All patients showed elevated urinary malonic and methylmalonic acids. Two presented with mild metabolic findings such as vomiting, hypoglycemia, or growth retardation, while two exhibited neurodevelopmental phenotypes with regression, ataxia, and refractory epilepsy. One patient developed ketotic hypoglycemia during illness, and two had growth failure despite nutritional interventions. One patient carried a homozygous deletion consistent with neuronal ceroid lipofuscinosis type 7, indicating a dual diagnosis.Conclusion: This case series broadens the clinical spectrum of ACSF3 -related CMAMMA and reinforces that the condition extends beyond a benign biochemical abnormality. The presence of genotypes and variable neurological involvement underscores the need for comprehensive genomic testing and long-term multidisciplinary monitoring to define prognosis and guide individualized management.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"102-106"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147845381","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 male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia. 一个男性婴儿与一种新的异质核核糖核蛋白H1变异，双侧白内障，发育不良的拇指，和严重的气道软化。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-05-27 DOI: 10.1097/MCD.0000000000000557

Abhinav Thakral, Christina Theodoris, Robert Wallerstein

引用次数: 0

Endocrine-predominant type 2 Woodhouse-Sakati syndrome caused by a novel homozygous DCAF17 variant. 由一种新的纯合DCAF17变异引起的内分泌显性2型Woodhouse-Sakati综合征。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-05-27 DOI: 10.1097/MCD.0000000000000563

Ajaz Qadir, Shahid Ahmad Ganie, Javid Ahmad Sofi, Shivam Sharma

引用次数: 0

A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome. 以胎儿肢体缩短为表现的蛇形腓骨-多囊肾综合征一例：胎儿成骨障碍和Hajdu-Cheney综合征的部分表型谱。

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-05-05 DOI: 10.1097/MCD.0000000000000568

Yumi Ito, Naoki Ito, Yukiko Kuroda, Tsuyoshi Isojima, Masaru Yabusaki, Emi Okishio, Misaki Kodera, Kiyoko Morita, Shinya Tomori, Norihumi Hagiwara, Kazuhiro Takahashi, Masakazu Mimaki

引用次数: 0

Congenital microcephaly with subtle craniofacial dysmorphism because of a novel homozygous asparagine synthetase variant. 一种新的纯合子天冬酰胺合成酶变异引起的先天性小头畸形伴轻微颅面畸形。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-28 DOI: 10.1097/MCD.0000000000000571

Marilena Carmela Di Giacomo, Luisiana Stolfi, Elisa Pisaneschi, Maria Scavone, Orazio Palumbo, Stefano Mancino, Antonio Novelli, Simona Pesce

引用次数: 0

Novel cardiac findings in a patient with ASPM-related primary microcephaly. aspm相关的原发性小头畸形患者的心脏新发现。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-17 DOI: 10.1097/MCD.0000000000000570

Deepa S Kumar, Caitlin Schwager, Dihong Zhou, Tyler A Fick

引用次数: 0

Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus. 报春花综合征伴新型ZBTB20变异伴先天性青光眼和脑积水。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-13 DOI: 10.1097/MCD.0000000000000566

Abhinav Thakral, Robert Wallerstein

引用次数: 0

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family. 巴基斯坦一个家族中引起常染色体隐性脊髓小脑共济失调-13的代谢性谷氨酸受体1新突变的鉴定

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2026-01-30 DOI: 10.1097/MCD.0000000000000552

Shafeeq Ahmad, Bushra Khan, Hamza Shams, Go Hun Sao, Ambreen Gul, Rin Khang, Saadullah Khan, Umm-E Kalsoom

{"title":"Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.","authors":"Shafeeq Ahmad, Bushra Khan, Hamza Shams, Go Hun Sao, Ambreen Gul, Rin Khang, Saadullah Khan, Umm-E Kalsoom","doi":"10.1097/MCD.0000000000000552","DOIUrl":"10.1097/MCD.0000000000000552","url":null,"abstract":"Background: Autosomal recessive spinocerebellar ataxia-13 is a rare multifactorial disorder characterized by physical disability, cerebellar ataxia, adaptive behavior, intellectual disability, response to sudden noise and light, sensation, skeletal, and oculomotor abnormalities. It affects both males and females equally. So far, only seven variants have been identified in the glutamate metabotropic receptor 1 ( GRM1 ) gene in 18 familial cases of Roma, Iranian, Pakistani, and Tunisian origins.Methods: In the present study, we have investigated a large consanguineous family of Pakistani origin presenting severe phenotypes like intellectual disability, delayed developmental milestones, severe ataxia, and nonprogressive neuropathy. Whole exome sequencing was done, followed by Sanger sequencing.Results: Sequence analysis revealed a novel homozygous deletion mutation (c.1715del) in the GRM1 gene (NM_001278064.2) that led to the substitution of Asn with Met at the 572 amino acid position, leading to frame shift and premature termination (p. Asn572MetfsTer4).Conclusion: This study raised the total number of GRM1 variants to eight and would be helpful in prenatal screening, genetic counseling, and carrier testing of other members in the Pakistani community.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"56-62"},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127372","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 platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview. 复发性血小板衍生生长因子受体β基因突变在Kosaki过度生长综合征：分子和临床综述。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-04-01 Epub Date: 2025-12-12 DOI: 10.1097/MCD.0000000000000547

Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, Ove Bruland, Cecilie F Rustad, Laurence Faivre, Eyvind Rødahl, Cecilie Bredrup

{"title":"Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.","authors":"Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, Ove Bruland, Cecilie F Rustad, Laurence Faivre, Eyvind Rødahl, Cecilie Bredrup","doi":"10.1097/MCD.0000000000000547","DOIUrl":"10.1097/MCD.0000000000000547","url":null,"abstract":"Objective: Kosaki overgrowth syndrome (KOGS) is a rare genetic disorder linked to germline variants in the platelet-derived growth factor receptor beta gene ( PDGFRB ) that is characterized by postnatal overgrowth, hyperelastic skin, lipodystrophy, and craniofacial anomalies. This study aimed to summarize clinical and genetic data from reported KOGS cases and investigate the molecular consequences of two recurrent KOGS-associated PDGFRB variants.Methods: Clinical and genetic information from 17 previously published KOGS cases was reviewed. Molecular studies were performed using patient-derived fibroblasts and genetically modified cells transduced with the recurrent PDGFRB variants Trp566Arg and Pro584Arg. Downstream signaling and phosphorylation of PDGFRβ tyrosine residues were assessed by immunoblotting and immunocytochemistry.Results: Both variants induced phosphorylation of specific PDGFRβ tyrosine residues and activated downstream signaling pathways in the absence of ligand stimulation, which could contribute to the phenotypic overgrowth observed in KOGS. Immunocytochemistry revealed vesicle-like structures of phosphorylated PDGFRβ (pY740), resembling wild-type cells stimulated with growth factor, thereby supporting the constitutive activation of PDGFRβ in patient fibroblasts. Both variants showed sensitivity to the tyrosine kinase inhibitor imatinib.Conclusion: Recurrent PDGFRB variants in KOGS cause ligand-independent activation of PDGFRβ, contributing to the overgrowth phenotype. Imatinib may represent a potential targeted therapeutic option.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"47-55"},"PeriodicalIF":0.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145507896","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