Congenital anomalies最新文献

{"title":"Obituary for Dr. Robert L. Brent.","authors":"M. Yasuda","doi":"10.1111/cga.12419","DOIUrl":"https://doi.org/10.1111/cga.12419","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"18 1","pages":"74-75"},"PeriodicalIF":0.0,"publicationDate":"2021-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79744601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tracheal cartilaginous sleeve in patients with Beare‐Stevenson syndrome","authors":"Eijun Seki, Keisuke Enomoto, K. Tanoue, Mio Tanaka, K. Kurosawa","doi":"10.1111/cga.12352","DOIUrl":"https://doi.org/10.1111/cga.12352","url":null,"abstract":"Tracheal cartilaginous sleeve (TCS), a life-threatening malformation in patients with craniosynostosis syndromes, is a solid cartilaginous tube lacking the pars membranacea, caused by defective C-shaped tracheal rings. Without tracheostomy, it has a 90% mortality by 2 years. Beare-Stevenson syndrome (BSS) is a distinct craniosynostosis syndrome characterized by cutis gyrata. BSS is caused by one of two specific gain-of-function mutations of FGFR2, including p.Y375C and p.S372C (Supporting information Reference S1). Studies attribute the high mortality of BSS to respiratory distress, secondary to TCS, and other unexplained factors. However, in most BSS patients, the mechanism by which TCS causes sudden death remains unknown. To increase knowledge regarding TCS and Chiari malformation for respiratory distress in BSS, we report two cases with BSS and TCS. Patient 1 was the second child of healthy Japanese parents. After birth, she was intubated for severe respiratory failure caused by airway obstruction and choanal stenosis. Chest computed tomography (CT) and bronchoscopy showed dorsal recession of the tracheal internal wall, suggesting TCS (Figure 1A). She underwent ventriculoperitoneal (VP)-shunt placement; tracheostomy owing to choanal stenosis and glossoptosis; conventional cranioplasty with fronto-orbital advancement for anterior part expansion; and decompression for Chiari malformation, which had resulted in hydrocephaly, at 1, 2, 3, and 10 months, respectively. Thereafter, she was followed with oxygen therapy. At 5 years, she developed severe sleep apnea. A polysomnography (PSG) showed severe central sleep apnea with apnea hypoxia index (AHI) 140/h and SpO2 nadir 74%. Although bronchoscopy showed improvements in the tracheal wall abnormality, spinal magnetic resonance imaging revealed a hyper-intense signal at the C2 level (Figure 1B). She underwent additional decompression and required mechanical ventilation during sleep. Genetic analysis revealed a pathogenic FGFR2 variant c.1124A>G (p.Tyr375Cys). Currently, at 6 years of age, she can shuffle and requires mechanical ventilation during sleep. Patient 2 was the third child of healthy parents. His detailed clinical course in early childhood has been described previously. He underwent tracheostomy, owing to severe respiratory distress caused by choanal stenosis and epiglottis thickening; VP-shunt placement; conventional cranioplasty with fronto-orbital advancement for anterior part expansion; and decompression for Chiari malformation, which had resulted in hydrocephaly, at 16 days and at 2, 8, and 18 months, respectively. The tracheostomy tube was custom-made and designed to elongate and get over the portion of TCS. At age 10, he developed obstructive respiratory distress. Chest CT showed tracheostomy tube obstruction by a TCS-related dented deformity (Figure 1C). At 12 years of age, he died suddenly after respiratory distress caused by tracheostomy tube obstruction. The tip of the tracheostomy","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"68 1","pages":"97 - 99"},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90963777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered neuronal activity in the auditory brainstem following sound stimulation in thalidomide‐induced autism model rats","authors":"L. E. Tsugiyama, Michiru Ida-Eto, Takeshi Ohkawara, Y. Noro, M. Narita","doi":"10.1111/cga.12353","DOIUrl":"https://doi.org/10.1111/cga.12353","url":null,"abstract":"Auditory hypersensitivity in autism is frequently observed in clinics. Dysfunction in the auditory brainstem has been suspected. We have established autism model rats using prenatal thalidomide exposure. Here we investigated whether abnormal response occurs in the brainstem following sound stimulus in autism model rats. Autism model rats were prepared by prenatal exposure to thalidomide on embryonic days 9 and 10 in pregnant rats. Then, the animals were exposed to 16‐kHz pure tone auditory stimulus and c‐Fos immunostaining was performed to examine the neuronal activity on postnatal day 49 to 51. Following sound stimulus, increased number of c‐Fos‐positive neurons was observed in the medial nucleus of the trapezoid body of autism model rats compared with the control rats. These results suggest that prenatal thalidomide might cause altered processing of auditory stimulus, leading to the characteristics of auditory hypersensitivity in autism.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"4 1","pages":"82 - 86"},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82474692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12","authors":"Hiroaki Murakami, Yumi Enomoto, Y. Tsurusaki, Y. Sugio, K. Kurosawa","doi":"10.1111/cga.12350","DOIUrl":"https://doi.org/10.1111/cga.12350","url":null,"abstract":"MED12 is a component of the large multiprotein Mediator complex. MED12 variants have been linked to three different X-linked intellectual disability (ID) syndromes, including Ohdo syndrome of the Maat-Kievit-Brunner phenotype (OSMKB), Opitz-Kaveggia (FG) syndrome, and Lujan-Fryns syndrome (LFS). This article is protected by copyright. All rights reserved.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"4 1","pages":"91 - 93"},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87328664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low‐prevalence mosaicism of chromosome 18q distal deletion identified by exome‐based copy number profiling in a child with cerebral hypomyelination","authors":"T. Shiohama, M. Nakashima, Hajime Ikehara, Mitsuhiro Kato, H. Saitsu","doi":"10.1111/cga.12351","DOIUrl":"https://doi.org/10.1111/cga.12351","url":null,"abstract":"Partial deletions of chromosome 18q distal lead to diverse congenital dysmorphic features such as hypomyelination short stature cleft lip and palate foot deformity and aural atresia. In contrast mosaicism of 18q distal deletion is a rarer situation with a highly variable phenotype, leading to clinical diagnostic challenges A Japanese female was born at term with no asphyxia. Her family history was unremarkable. At 5 months of age, the patient was admitted due to no head control. Physical examination revealed general muscle hypotonus, course face with hypertelorism, microcephaly (37.5 cm, −2.7SD), curly hair, lymphedema foot, short fifth fingers, and malposition of the first and the fifth foot digits. Gastrointestinal and urological examination revealed tubular anal duplication, right hydronephrosis, and vesicoureteral reflux. She subsequently presented focal epilepsy with the dominancy in the left upper limb and bilateral sensorineural hearing loss. Brain magnetic resonance imaging at 5 years of age showed complete agenesis of the corpus callosum (ACC) (Figure 1A) and diffuse cerebral hypomyelination (Figure 1B). At 10 years, she could sit supported, but say no words. G-banded analysis at 2 years of age showed a normal female karyotype (46,XX). We performed whole exome sequencing (WES) at 11 years of age. We could not find any possible pathogenic single nucleotide variants but found about 20 Mb deletion at 18q21.31-qter (chr18:56585841-77513763) by two copy number variants (CNVs) detection tools (Figure 1C,D). The quantitative polymerase chain reaction showed 0.8 of relative copy number ratio to a control sample. The FISH analysis using 18q unique probe showed two copy signal patterns in all the 10 lymphocytes prepared at 2 and 7 years. Finally, we evaluated the WES data by H3M2 program, a detection program of runs of homozygosity. In the normal two copy region, B allele frequency (BAF), the ratio between B-allele read counts and the total number of reads mapped to that position (A + B allele), showed three lines. Value of zero and 1.0 means homoor hemizygous for A and B alleles, respectively, and about 0.5 means heterozygous allele. However, in the deletion interval, BAF showed four lines, suggesting that two types of heterozygous alleles (mosaic A or B allele deletion in the A/B heterozygous allele) were present in this region (Figure 1D). Chromosomal microarray analysis (CytoScan HD Array, Affymetrix) showed arr[hg19] 18q21.2q23(51392374-78 014 123)x1-2 (Figure S1). Therefore, we concluded that this patient has the low-prevalence mosaic deletion of 18q21.2qter. The partial deletion on the chromosome 18q23 including myelin basic protein (MBP) and a galanin receptor (GALR1) is critically related to cerebral hypomyelination. Prior cohort studies reported that partial chromosome 18q deletion was identified in three of 26 patients with hypomyelination leukodystrophy, and none of 162 patients with ACC. Although the combination of cerebral hypomyelin","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"34 1","pages":"94 - 96"},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90894938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"THE 59TH ANNUAL MEETING OF THE JAPANESE TERATOLOGY SOCIETY THE 13TH WORLD CONGRESS OF THE INTERNATIONAL CLEFT LIP AND PALATE FOUNDATION - CLEFT 2019.","authors":"","doi":"10.1111/cga.12359","DOIUrl":"https://doi.org/10.1111/cga.12359","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"87 1","pages":"A1-A89"},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77244517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reviewers","authors":"","doi":"10.1111/cga.12360","DOIUrl":"https://doi.org/10.1111/cga.12360","url":null,"abstract":"Asselain, Bernard. Atsushi, Narita. Aydin, Emine. Azab, Belal. Baba, Otto. Bergman, Jorieke E. H. Borg, Isabella. Bragg, DC. Crofton, Kevin. Dastgiri, Saeed. Endo, Masayuki. Fujiwara, Michio. Hashemi, Mohammad. Hashizume, Naoki. Hashizume, Naoki. Horimoto, Masao. Hoshi, Nobuhiko. Imoto, I. Imura, Hideto. Io, Shingo. Iseki, Sachiko. Itoh, Motoyuki. Johnston, JJ. Kaname, Tadashi. Kanda, Yasunari. Kikuchi, Norihiko. Kohno, Miyuki. Kondo, Atsuo. Kondo, Eiji. Kosaki, Rika. Kosho, Tomiki. Kumamoto, Takayuki. Kuroda, Yukiko. Kurosawa, Kenji. Lamers, Wouter. López Camelo, Jorge. Matsuo, Mari. Matsuo, Takuya. Mineshima, Hiroshi. Miyake, Hidehiko. Mizuguchi, Masashi. Moslehi, Roxana. Nakajima, Takayuki. Nakajima, Yuji. Nakamura, Yasushi. Nakanishi, Tsuyoshi. Nakata, Hiroki. Narita, Masaaki. Naruse, Katsuhiko. Naseer, Muhammad. Nelson, Pace. Nemoto, Takahiro. Niihori, Tetsuya. Ninomiya, Shinsuke. Nishijyo, Muneko. Numabe, Hironao. Obara, Taku. Okamoto, Nobuhiko. Osaka, Hitoshi. Otani, Hiroki. Özel, Ş. Ozgu-Erdinc, A. Seval. Park, JH. Patil, Siddaramappa. Pooh, Ritsuko. Saito, Shinji. Saitsu, Hirotomo. Seto, Toshiyuki. Shahid, Ramla. Shimizu, Kenji. Shimojima, Keiko. Shiota, Kohei. Stankiewicz, Pawel. Takenouchi, Toshiki. Tsuji, Ryozo. Umair, Muhammad. Van Gemert, Martin J.C. Wada, Takahito. Wenger, Tara L. Wilson, R. Douglas. Wu, Wei-Li. Yamada, Shigehito. Yamada, T. Yamamoto, Toshiyuki. Yoshihashi, Hiroshi. DOI: 10.1111/cga.12360","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87713461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What we should do for the future of children—A report on the Joint Meeting of the 59th Annual Meeting of the Japanese Teratology Society and the 13th World Congress of the International Cleft Lip and Palate Foundation‐CLEFT 2019","authors":"N. Natsume","doi":"10.1111/cga.12355","DOIUrl":"https://doi.org/10.1111/cga.12355","url":null,"abstract":"The Joint Meeting of the 59th Annual Meeting of the Japanese Teratology Society and the 13th World Congress of the International Cleft Lip and Palate Foundation—CLEFT 2019—was held at Meijo-Koen Campus of Aichi Gakuin University in Nagoya, Aichi in Japan, from 26 to 29 July 2019. The main theme of the meeting was advocated to be “For the Future of Children.—Disseminating a philosophy of “Medicine is Jinjutsu” from Japan to the world.” And for the meeting, the following topics were suggested: (a) What you can do to protect the lives of fetuses, (b) Treatment and research for congenital anomalies.—Introduce the delicate skills and techniques and the latest research from Japan, (c) Current status and outlook for international medical assistance in congenital anomalies.—Dissemination the philosophy of “Medicine is Jinjutsu (a benevolent art),” (d) The role of monitoring of congenital anomalies in Japan.—Including the data of “Fukushima” after the 2011 nuclear accident, (e) Possible roles of the folic acid for prevention of congenital anomalies. We appointed Mr. Akihisa Mizuno (President, Japanese Cleft Palate Foundation; Chairman of the Board of Directors, Chubu Electric Power Co., Inc.) as the Honorary Congress President and Prof. Nagato Natsume (Director, Cleft Lip and Palate Center Aichi Gakuin University Hospital; Professor, Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University) as the Congress President. As Vice Congress Presidents, Prof. Yuri Fujiwara (Department of Speech-Language-Hearing Therapy, Osaka Health Science University), Prof. Koichi Ueda (Department of Plastic and Reconstructive Surgery, Osaka Medical College), Prof. Noriaki Yoshida (Department of Orthodontics and Dentofacial Orthopedics, Nagasaki University), Dr. Jun Takebe (Department of Removable Prosthodontics, Aichi Gakuin University) were appointed. Dr. Hideto Imura and Dr. Toko Hayakawa acted as Chairs of the Preparatory Committee, and Dr. Masaaki Ito played a role of the Vice Chair of the Preparatory Committee (Figure 1). The joint meeting has gotten 723 participants from a total of 41 countries and regions. The countries and regions included Belgium, Cambodia, Chile, China, Czech Republic, Ecuador, Egypt, Ethiopia, Finland, Germany, Hong Kong Special Administrative Region of China, India, Indonesia, Iraq, Israel, Kuwait, Lao PDR, Mexico, Mongolia, Mozambique, Myanmar, Nigeria, Pakistan, Philippines, Republic of Korea, Russian Federation, Singapore, South Africa, Spain, Sri Lanka, Sudan, Taiwan, Thailand, Tunisia, Turkey, Ukraine, United Kingdom of Great Britain and Northern Ireland, United States of America, Uzbekistan, and Viet Nam (Figure 1). The number of presentations counted 323 titles. The Presidential Lecture was titled “Dedicating my life to treat cleft lip and palate with deep appreciation to ICPF and JTS.” The program included seven other Special Lectures: “Towards establishment of “Embryatrics”; revisited and ","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"42 1","pages":"186 - 189"},"PeriodicalIF":0.0,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85161222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia","authors":"J. Al-Aama, H. S. Al-Zahrani, M. Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi, Saleem Ahmed","doi":"10.1111/cga.12217","DOIUrl":"https://doi.org/10.1111/cga.12217","url":null,"abstract":"Jumana Yousuf Al-Aama, Hams Saeed Al-Zahrani, Musharraf Jelani , Hesham Salih Sabir, Saad Abdullah Al-Saeedi, and Saleem Ahmed Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Pediatric Radiology Unit, Faculty of Medicine, and Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"50 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80671250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9","authors":"Hiroko Shimbo, T. Oyoshi, K. Kurosawa","doi":"10.1111/cga.12216","DOIUrl":"https://doi.org/10.1111/cga.12216","url":null,"abstract":"Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"642 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84178164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}