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Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia. 东南亚四名眼部表型患者的 PAX6 新变异和复发性变异。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-28 DOI: 10.1097/MCD.0000000000000487
Jeannette Goh, Heming Wei, Angeline H M Lai, Benjamin Chang, Shazia Khan, Yamon Syn, Saumya S Jamuar, Ene-Choo Tan
{"title":"Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.","authors":"Jeannette Goh, Heming Wei, Angeline H M Lai, Benjamin Chang, Shazia Khan, Yamon Syn, Saumya S Jamuar, Ene-Choo Tan","doi":"10.1097/MCD.0000000000000487","DOIUrl":"10.1097/MCD.0000000000000487","url":null,"abstract":"<p><p>Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (PAX6), which codes for a transcription factor that regulates eye development. Four patients from our hospital who presented with ocular phenotypes were recruited for research sequencing with informed consent. Sanger sequencing of PAX6 coding exons or exome sequencing was performed on genomic DNA from venous blood samples. Variants in PAX6 were identified in the four patients. Two variants are recurrent single-nucleotide substitutions - one is a substitution found in a patient with bilateral aniridia, whereas the other is a splice variant in a patient with nystagmus and neuroblastoma. The other two variants are novel and found in two patients with isolated aniridia. Both are small duplications that are predicted to lead to premature termination. For the recurrent variants, the comparison of phenotypes for patients with identical variants would shed light on the mechanisms of pathogenesis, and the discovery of two novel variants expands the spectrum of PAX6 mutations.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 2","pages":"63-68"},"PeriodicalIF":0.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029501","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
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report. 小头畸形原发性侏儒症 II 型和良性家族性婴儿癫痫 2 型的双重诊断：病例报告。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-06 DOI: 10.1097/MCD.0000000000000493
Shuyao Zhu, Jin Wang, Hui Zhu, Qiyan Wang, Bei Tang, Fu Xiong, Zemin Luo, Ai Chen, Xueyan Wang, Xiangyou Leng, Lan Zeng
{"title":"Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report.","authors":"Shuyao Zhu, Jin Wang, Hui Zhu, Qiyan Wang, Bei Tang, Fu Xiong, Zemin Luo, Ai Chen, Xueyan Wang, Xiangyou Leng, Lan Zeng","doi":"10.1097/MCD.0000000000000493","DOIUrl":"10.1097/MCD.0000000000000493","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 2","pages":"83-86"},"PeriodicalIF":0.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029500","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
A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases. 一例 14q 终末缺失综合征和半面小畸形病例，并回顾了 14q 终末缺失病例。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-15 DOI: 10.1097/MCD.0000000000000492
Hayriye Nermin Keçeci', Müşerref Basdemirci, Hüseyin Çaksen
{"title":"A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases.","authors":"Hayriye Nermin Keçeci', Müşerref Basdemirci, Hüseyin Çaksen","doi":"10.1097/MCD.0000000000000492","DOIUrl":"10.1097/MCD.0000000000000492","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"90-94"},"PeriodicalIF":0.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974287","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
Prenatal presentation and diagnosis of a case of fetal varicella syndrome. 一例胎儿水痘综合征的产前表现和诊断。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-06 DOI: 10.1097/MCD.0000000000000480
Manisha Yadav, Mamatha Gowda, Chinta Navya, Kirti Deodhare, Sneha Murugesan
{"title":"Prenatal presentation and diagnosis of a case of fetal varicella syndrome.","authors":"Manisha Yadav, Mamatha Gowda, Chinta Navya, Kirti Deodhare, Sneha Murugesan","doi":"10.1097/MCD.0000000000000480","DOIUrl":"10.1097/MCD.0000000000000480","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"99-103"},"PeriodicalIF":0.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747736","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
Variants of the GNAI1 gene manifest as Prader-Willi-like syndrome: Case report with literature review. GNAI1 基因变异表现为 Prader-Willi-like 综合征：病例报告与文献综述。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-28 DOI: 10.1097/MCD.0000000000000491
Fatima AbdulAziz AlAli, Taqwa Drdir, Amna Yahya, Elham Al Amiri
{"title":"Variants of the GNAI1 gene manifest as Prader-Willi-like syndrome: Case report with literature review.","authors":"Fatima AbdulAziz AlAli, Taqwa Drdir, Amna Yahya, Elham Al Amiri","doi":"10.1097/MCD.0000000000000491","DOIUrl":"10.1097/MCD.0000000000000491","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 2","pages":"69-74"},"PeriodicalIF":0.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029502","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
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families. 刚果民主共和国的脆性X综合征:来自三个家庭的14名受试者的畸形、认知和行为发现
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-11-29 DOI: 10.1097/MCD.0000000000000471
Toni Kasole Lubala, Tony Kayembe-Kitenge, Nina Lubala, Gray Kanteng, Oscar Luboya, Randi Hagerman, Prosper Lukusa-Tshilobo, Aimé Lumaka
{"title":"Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families.","authors":"Toni Kasole Lubala, Tony Kayembe-Kitenge, Nina Lubala, Gray Kanteng, Oscar Luboya, Randi Hagerman, Prosper Lukusa-Tshilobo, Aimé Lumaka","doi":"10.1097/MCD.0000000000000471","DOIUrl":"10.1097/MCD.0000000000000471","url":null,"abstract":"<p><p>This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14-38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ranging from mild (IQ 50-70) to moderate (IQ 35-49) intellectual disability (Average IQ of 60). All our female patients have ID.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"9-15"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464149","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
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis. 一组受α-甘露寡糖病影响的意大利患者的长期结果。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-11-23 DOI: 10.1097/MCD.0000000000000474
Anna Bertolini, Miriam Rigoldi, Annalia Cianflone, Raffaella Mariani, Alberto Piperno, Francesco Canonico, Graziella Cefalo, Francesca Carubbi, Alessandro Simonati, Maria Letizia Urban, Tommaso Beccari, Rossella Parini
{"title":"Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.","authors":"Anna Bertolini, Miriam Rigoldi, Annalia Cianflone, Raffaella Mariani, Alberto Piperno, Francesco Canonico, Graziella Cefalo, Francesca Carubbi, Alessandro Simonati, Maria Letizia Urban, Tommaso Beccari, Rossella Parini","doi":"10.1097/MCD.0000000000000474","DOIUrl":"10.1097/MCD.0000000000000474","url":null,"abstract":"<p><p>Alpha-mannosidosis (MIM #248500) is an ultra-rare autosomal recessive lysosomal storage disease with multi-system involvement and a wide phenotypic spectrum. Information on long-term outcomes remains poor. We present the long-term outcomes (median, 19 years) of nine patients with alpha-mannosidosis, three females and six males, followed at a single center. The findings of the nine patients were collected from medical records and reported as mean ± SD or median, and range. The age of onset of the first symptoms ranged from 0-1 to 10 years. The diagnostic delay ranged from 2 to 22 years (median= 11 years). Coarse face, hearing, heart valves, joints, gait, language, dysarthria, psychiatric symptoms, I.Q., MRI, walking disabilities, orthopedic disturbances and surgeries showed a slow worsening over the decades. Our patients showed a slowly worsening progressive outcome over the decades. Psychiatric symptoms were present in 100% of our population and improved with the appropriate pharmacological intervention. This aspect requires attention when following up on these patients. Our description of the long-term evolution of alpha-mannosidosis patients may provide basic knowledge for understanding the effects of specific treatments.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"1-8"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10702697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41156446","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
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects. 易位t(X;Y)染色体微阵列和FISH特征的表型男性与小眼和线状皮肤缺陷。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-11-11 DOI: 10.1097/MCD.0000000000000477
Kanika Singh, Meena Lall, Shruti Agarwal, Ratna D Puri
{"title":"Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects.","authors":"Kanika Singh, Meena Lall, Shruti Agarwal, Ratna D Puri","doi":"10.1097/MCD.0000000000000477","DOIUrl":"10.1097/MCD.0000000000000477","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"50-54"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464151","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
LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature. LPIN2相关Majeed综合征：两例印度LPIN2新变异患者的报告和文献综述。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-10-12 DOI: 10.1097/MCD.0000000000000476
Vaishnavi Ashok Badiger, Suma Balan, Sumanth Madan, Kishore Sai Gogineni, Hitesh Shah, Dhanya Lakshmi Narayanan
{"title":"LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature.","authors":"Vaishnavi Ashok Badiger, Suma Balan, Sumanth Madan, Kishore Sai Gogineni, Hitesh Shah, Dhanya Lakshmi Narayanan","doi":"10.1097/MCD.0000000000000476","DOIUrl":"10.1097/MCD.0000000000000476","url":null,"abstract":"<p><p>LPIN2 -related Majeed syndrome (MIM# 609628) is a rare non-inflammasome autoinflammatory disease, caused due to biallelic variants in LPIN2 (MIM* 605519). To date, only 31 individuals from 18 families have been reported with this rare condition. Exome sequencing was done in two affected individuals from two unrelated families. Additionally, phenotypic, and genotypic information from the literature was reviewed. Two novel homozygous missense variants, c.2207G>A p. (Arg736His) and c.1157C>G p. (Ser386Ter) in LPIN2 , were identified in family 1 and family 2 respectively. Chronic recurrent osteomyelitis involving the lower extremities was the most common clinical presentation. LPIN2 -related Majeed syndrome should be considered as a differential diagnosis in an individual with clinical or radiological evidence of recurrent sterile osteomyelitis and chronic anaemia.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"27-30"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49684585","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
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants. 一个患有tonne - kalsheeuer综合征的家庭中的结肠瘤:扩展RLIM变体的表型。
IF 0.7 4区 医学
Clinical Dysmorphology Pub Date : 2024-01-01 Epub Date: 2023-11-14 DOI: 10.1097/MCD.0000000000000478
Kerra M Templeton, Louise Thompson, Edward S Tobias, S Faisal Ahmed, Ruth McGowan
{"title":"Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants.","authors":"Kerra M Templeton, Louise Thompson, Edward S Tobias, S Faisal Ahmed, Ruth McGowan","doi":"10.1097/MCD.0000000000000478","DOIUrl":"10.1097/MCD.0000000000000478","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"38-42"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464147","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
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