CLINICAL DYSMORPHOLOGY 发表关于出生缺陷的病因、临床描述、遗传图谱和分子胚胎学的简明病例报告。该杂志涵盖了多种先天性异常综合征等主题——特别强调了以前未描述的情况、罕见的发现、现有综合征的种族差异、胎儿异常和可能为发育基因定位提供线索的细胞遗传学异常。常规功能包括原创的、同行评审的文章、会议报告、书籍和软件评论、来自英国变形学俱乐部的摘要和摘要，以及文献摘要。提交的文章经过编辑的初步审查。有些文章可能会在没有进一步考虑的情况下退回给作者。那些被考虑出版的人将接受编辑的进一步评估和同行评审，以及那些被邀请从审稿人库中这样做的人。

Clinical Dysmorphology publishes concise case reports on the etiology, clinical descriptions, genetic mapping, and molecular embryology of birth defects. The journal covers a variety of congenital anomaly syndromes, with a particular emphasis on previously unreported conditions, rare findings, ethnic variations of existing syndromes, fetal abnormalities, and cytogenetic anomalies that may provide clues for developmental gene localization. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts from the British Dysmorphology Club, and literature summaries. Submitted articles undergo preliminary editorial review, and some may be returned to authors without further consideration. Those considered for publication will undergo further editorial assessment and peer review, with reviewers invited from a pool of reviewers.

《Clinical Dysmorphology》发表关于出生缺陷的病因、临床特征、遗传图谱和分子胚胎学的简明病例报告。该杂志涵盖多种先天性异常综合征，特别强调以前未描述的情况、罕见发现、现有综合征的种族差异、胎儿异常以及可能为发育基因定位提供线索的细胞遗传学异常。常规功能包括原创的、经过同行评审的文章、会议报告、书籍和软件评论、来自英国变形学俱乐部的摘要，以及文献综述。提交的文章经过编辑的初步审查，有些文章可能会在没有进一步考虑的情况下退回给作者。那些被考虑出版的文章将接受编辑的进一步评估和同行评审，审稿人将从审稿人库中邀请。

Clinical Dysmorphology

Objective This study aimed to elucidate the fetal ultrasound characteristics, pathology, and molecular genetic etiology of autosomal recessive tubular dysplasia. Methods This retrospective study examined four fetuses with autosomal recessive tubular dysplasia (ARRTD) from two pregnancies, utilizing ultrasound evaluations and fetal renal pathology. Whole-exome sequencing-copy number variation analysis was employed to identify gene mutations. Results We present for the first time renal vascular resistance in fetuses with ARRTD, characterized by increased renal blood flow resistance and reversed diastolic blood flow, indicating fetal renal insufficiency. This is the first report of a nonsense mutation (C.571C&gt;T) found in the angiotensinogen gene. Conclusion ARRTD disease should be strongly suspected when ultrasound examinations reveal increased renal blood flow resistance, oligohydramnios, and inadequate bladder filling, regardless of the presence of renal abnormalities.

Yang Liu

Caiqun Luo

Xiaoxia Wu

Liyuan Chen

Xiushu Cao

Hui Wang

Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations

常染色体隐性遗传性肾小管发育不良：产前超声扫描与分子研究

Introduction Kohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation. Case report Here we report the observation of sibling pairs in a family from a small village in India who presented with nephrocalcinosis, distal renal tubular acidosis, and skeletal abnormality. Nephrocalcinosis has only been reported once before in an individual affected with KTS. Results Trio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.646-2_649del, in exon 9 of the ROGDI gene (NM_024589.3) in the first child. Sanger sequencing confirmed homozygosity in both children. Both parents are heterozygous carriers of the same variant. Conclusion Further research needs to be done to identify the exact mechanism by which ROGDI -encoded protein deficiency leads to nephrocalcinosis and distal renal tubular acidosis.

Gayatri Nerakh

Swetha Koneru

Prashanth Rao Dhareneni

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome

ROGDI相关Kohlschütter-Tönz综合征两兄妹中的肾钙质沉着症、远端肾小管酸中毒及骨骼异常

Background: Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral nervous system. Biallelic variants in DEGS1 , coding for desaturase 1 (Des1) protein, were recently reported to be associated with hypomyelinating leukodystrophy (HLD), a subclass of leukodystrophies where the formation of the myelin sheath is affected. Methods Genomic sequencing was performed on our index patient with severe developmental delay, severe failure to thrive, dystonia, seizures, and hypomyelination on brain imaging. Sphingolipid analysis was performed and dihydroceramide/ceramide (dhCer/Cer) ratios were obtained by the measurement of ceramide and dihydroceramide species. Results A homozygous missense variant was identified in DEGS1 (c.565A &gt; G:p Asn189Asp). The identified DEGS1 variant has been annotated as “conflicting reports of pathogenicity” on ClinVar. Follow-up sphingolipid analysis on our patient showed significantly raised dhCer/Cer and this was consistent with dysfunction of the Des1 protein, providing additional evidence to support the pathogenicity of this variant. Conclusion While rare, pathogenic variants in DEGS1 should be considered in patients with HLD phenotype. To date, 25 patients have been reported across four studies on DEGS1 -related HLD, and, in this report, we summarize the literature. More such reports will enable deeper phenotypic characterization of this disorder.

Melissa Song Ting Wong

Terrence Thomas

Jiin Ying Lim

Sylvia Kam

Jing Xian Teo

Jianhong Ching

Chew Yin Jasmine Goh

Saumya Shekhar Jamuar

Weng Khong Lim

Ai Ling Koh

DEGS1-related leukodystrophy: a clinical report and review of literature

DEGS1相关性脑白质营养不良：临床报告与文献综述

Joslyn, Peter W.; Barkemeyer, Amanda K.; Gupta, Raegan W.; Barkemeyer, Brian M. Author Information

Peter W. Joslyn

Amanda K. Barkemeyer

Raegan W. Gupta

Brian M. Barkemeyer

Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common

胎儿甲氨蝶呤综合征：药物流产失败后的罕见综合征，可能变得更加常见

KCNK18 , a potassium channel subfamily K member 18 (MIM*613655), encodes for TWIK-related spinal cord K+ channel (TRESK) and is important for maintaining neuronal excitability. Monoallelic variants in KCNK18 are known to cause autosomal dominant migraine, with or without aura, susceptibility to, 13 (MIM#613656). Recently, biallelic missense variants in KCNK18 have been reported in three individuals from a non-consanguineous family with intellectual disability, developmental delay, autism spectrum disorder (ASD), and seizure.Singleton exome sequencing was performed for the proband after detailed clinical evaluation to identify the disease-causing variants in concordance with the phenotype.We herein report an individual with intellectual disability, developmental delay, ASD, and epilepsy with febrile seizure plus with a novel homozygous stopgain variant, c.499C>T p.(Arg167Ter) in KCNK18 .This report further validates KCNK18 as a cause of autosomal recessive intellectual disability, epilepsy, and ASD.

Purvi Majethia

Rhea Harish

Dhanya Lakshmi Narayanan

Yatheesha B L

Suvasini Sharma

Anju Shukla

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus

KCNK18双等位基因变异作为智力障碍和热性惊厥附加症癫痫的进一步证据

Pooja Motwani

Haseena Sait

Clin Dysmorphol

Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report

6q23.3缺失的畸形儿童中的免疫失调：单个病例报告

Ayşe Burcu Doğan Ari

Özge Ağlamiş Şenel

Betül Siyah Bilgin

Esra Kiliç

Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome

Roberts 海豹肢综合征典型临床和影像学表现病例中的靶向基因检测方法

Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management.

Sandra Hui Min Lau

Lim Jiin Ying

Jonathan Choo

Cristelle Chow

Simon Ling

Yong Hong Ng

Tan Yi Hua

Khi Pin Chua

Minning Chin

Angeline Hwei Meeng Lai

Jeannette Lay Kuan Goh

Dilated aorta in CNOT3-related neurodevelopmental disorder: ‘expanding’ the phenotype

CNOT3相关神经发育障碍中的扩张型主动脉：“扩展”表型

Abbreviation	Clin. Dysmorphol.
Journal Impact	0.48
Quartiles(Global)	GENETICS & HEREDITY(Q4)

ISSN	0962-8827, 1473-5717
h-index	33

Publication Information	Publisher: Lippincott Williams and Wilkins，Publishing cycle: Quarterly，Journal Type: journal，Open Access Journals: No
Basic data	Year of publication: 1992，Proportion of original research papers: 84.09%，Self Citation Rate:0.00%， Gold OA Rate: 1.52%
Average review cycle	网友分享经验：较慢,6-12周
Average recruitment ratio	网友分享经验：容易

Clinical Dysmorphology

Journal Citation Format

A journal article with 1 author

A journal article with 2 authors

A journal article with 3 authors

A journal article with 5 or more authors

Books Citation Format

Thesis Citation Format

Web sites Citation Format

Patent Citation Format

Staying up late manually editing references? ivySCI automatically matches journals and helps you generate references with a single click.

Share Submission Experience

Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome

DEGS1-related leukodystrophy: a clinical report and review of literature

Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus

Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome

Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report

Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome

Dilated aorta in CNOT3-related neurodevelopmental disorder: ‘expanding’ the phenotype