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A new case of SUPT16H-associated syndromic neurodevelopmental delay. 一例新的 SUPT16H 相关综合征神经发育迟缓病例。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2024-07-01 Epub Date: 2024-05-29 DOI: 10.1097/MCD.0000000000000497
Surya Balakrishnan, Mouneesha Rachamadugu, Aneek Das Bhowmik, Karthik T Bharadwaj
{"title":"A new case of SUPT16H-associated syndromic neurodevelopmental delay.","authors":"Surya Balakrishnan, Mouneesha Rachamadugu, Aneek Das Bhowmik, Karthik T Bharadwaj","doi":"10.1097/MCD.0000000000000497","DOIUrl":"10.1097/MCD.0000000000000497","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 3","pages":"110-113"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180996","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
Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion. 一名患儿的银-鲁塞尔综合征（Silver-Russell Syndrome）样特征，其11号染色体重组自母体的同中心倒位。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2024-07-01 Epub Date: 2024-05-29 DOI: 10.1097/MCD.0000000000000483
Abraham Urzua, Sofía Catena, Paulina Morales, Guillermo Lay-Son
{"title":"Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion.","authors":"Abraham Urzua, Sofía Catena, Paulina Morales, Guillermo Lay-Son","doi":"10.1097/MCD.0000000000000483","DOIUrl":"10.1097/MCD.0000000000000483","url":null,"abstract":"<p><p>Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features resulting from a complex rearrangement of chromosome 11 inherited from his mother. We studied the index case with karyotyping, MS-MLPA and molecular karyotyping. The mother was studied with karyotyping and subtelomeric FISH. We found a child with marked developmental delay and fatal outcome due to failure to thrive, carrying an 11p15 duplication and an 11q25 deletion of maternal origin. We discovered that the mother was a carrier of a pericentric inversion of chromosome 11, with a history of recurrence in other family members who had severe growth retardation and early death. To our knowledge, no similar SRS-like cases have been described in the literature. This report supports the importance of identification the causative genetic mechanism in SRS-like individuals with duplication in 11p15 region due to high risk of recurrence and to provide an appropriate genetic counseling to the family.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 3","pages":"105-109"},"PeriodicalIF":0.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141181105","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
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant. 又一例新型 NKAP 致病变体导致的核斑点病。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2023-12-14 DOI: 10.1097/MCD.0000000000000485
Himanshu Goel, Sheridan O'Donnell, Tony Roscioli, Francesca Hart
{"title":"Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant.","authors":"Himanshu Goel, Sheridan O'Donnell, Tony Roscioli, Francesca Hart","doi":"10.1097/MCD.0000000000000485","DOIUrl":"10.1097/MCD.0000000000000485","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"79-82"},"PeriodicalIF":0.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724881","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
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population. 新型 UBE3B 基因突变：八名考夫曼眼脑面综合征患者的报告，以及来自高度近亲繁殖人群的其他临床发现。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-15 DOI: 10.1097/MCD.0000000000000486
AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana, Hanan AlQudairy, Rozeena Huma, Hadeel Binomar, Salma Majid Wakil, Mohammad Alowain, Dilek Colak, Namik Kaya, Moeenaldeen D AlSayed
{"title":"Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.","authors":"AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana, Hanan AlQudairy, Rozeena Huma, Hadeel Binomar, Salma Majid Wakil, Mohammad Alowain, Dilek Colak, Namik Kaya, Moeenaldeen D AlSayed","doi":"10.1097/MCD.0000000000000486","DOIUrl":"10.1097/MCD.0000000000000486","url":null,"abstract":"<p><p>Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel variants in UBE3B : a missense substitution [NM_130466.4: c.2975C>T; (p.Pro992Leu)] in the HECT domain in family 1, a 3-bp deletion within exon 14 [c.1692_1694delCTC; (p.Ser565del)] leading to removal of a serine residue in family 2, and a splice donor site variant in intron eight of UBE3B (c.630 + 1G>T) in family 3. Blepharophimosis, telecanthus, ptosis, intellectual disability and abnormal lipid profile were similar to those found in previously reported KOS patients. Longitudinal follow-up revealed rather marfanoid body habitus of the patients in family 1. This study reports eight patients from Saudi Arabia with novel deleterious variants in UBE3B and adds to the phenotypic spectrum of KOS.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"55-62"},"PeriodicalIF":0.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974288","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 case report of Hennekam syndrome with a mutation in the CCBE1 gene. 一例亨内卡姆综合征病例报告：CCBE1 基因突变。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-28 DOI: 10.1097/MCD.0000000000000488
Taner Durak, Derya Karaer, Kadri Karaer
{"title":"A case report of Hennekam syndrome with a mutation in the CCBE1 gene.","authors":"Taner Durak, Derya Karaer, Kadri Karaer","doi":"10.1097/MCD.0000000000000488","DOIUrl":"10.1097/MCD.0000000000000488","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"33 2","pages":"87-89"},"PeriodicalIF":0.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029437","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 novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia. 小脑发育不全和膈疝的巴莱泽-温特综合征非典型病例中的新型 ACTB 变异。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-01-05 DOI: 10.1097/MCD.0000000000000484
Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa
{"title":"A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.","authors":"Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa","doi":"10.1097/MCD.0000000000000484","DOIUrl":"10.1097/MCD.0000000000000484","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"75-78"},"PeriodicalIF":0.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724882","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 17-month-old girl with fetal valproate syndrome and ocular coloboma. 一名 17 个月大的女孩，患有胎儿丙戊酸钠综合征和眼球黑瘤。
IF 0.4 4区 医学
Clinical Dysmorphology Pub Date : 2024-04-01 Epub Date: 2024-02-15 DOI: 10.1097/MCD.0000000000000494
Maria Moutafi, Athina Ververi, Kyriaki Papadopoulou-Legbelou, Nikolaos Gkiourtzis, Maria Fotoulaki, Asimina Mataftsi
{"title":"A 17-month-old girl with fetal valproate syndrome and ocular coloboma.","authors":"Maria Moutafi, Athina Ververi, Kyriaki Papadopoulou-Legbelou, Nikolaos Gkiourtzis, Maria Fotoulaki, Asimina Mataftsi","doi":"10.1097/MCD.0000000000000494","DOIUrl":"10.1097/MCD.0000000000000494","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"95-98"},"PeriodicalIF":0.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974286","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
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 0.4 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":0.4,"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 0.4 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":0.4,"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 0.4 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":0.4,"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
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