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

Clinical Dysmorphology

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。

Category	Quartile
医学	4
医学, 遗传学	4

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

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4