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A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia Congenit. Anom. (IF 1.3) Pub Date : 2024-04-19 Shiho Nagayama, Hironori Takahashi, Fuyuki Hasegawa, Asuka Hori, Sho Kizami, Rieko Furukawa, Kenji Horie, Manabu Ogoyama, Kenichiro Hata, Hiroyuki Fujiwara
A 27‐year‐old multiparous woman conceived her fetus naturally. Early second‐trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole‐exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva
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Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay Congenit. Anom. (IF 1.3) Pub Date : 2024-04-08 Behnaz Moradi, Mohammad Hossein Golezar, Reihaneh Mortazavi Ardestani, Sara Hassanzadeh, Payam Jannatdoust, Masoumeh Banihashemian, Nasim Batavani
This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal urogenital anomalies. Fetal urogenital malformations account for 30%–50% of all anomalies discovered during pregnancy or at birth. They are usually detected by fetal ultrasound exams. However, when ultrasound data on their characteristics is insufficient, MRI is the best option for detecting other
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Assisted reproduction and congenital malformations: A systematic review and meta‐analysis Congenit. Anom. (IF 1.3) Pub Date : 2024-04-05 Meenakshi Veeramani, Neerujah Balachandren, Yong Hwa Hong, Jiyoon Lee, Antonio F. Corno, Dimitrios Mavrelos, Stavroula L. Kastora
Prior studies have explored the links between congenital anomalies and assisted reproduction techniques, among other factors. However, it remains unclear whether a particular technique harbors an inherent risk of major congenital anomalies, either cumulatively or in an organ‐specific manner. A meta‐analysis was conducted using relevant studies from inception to February 2023 using six databases and
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Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment Congenit. Anom. (IF 1.3) Pub Date : 2024-04-01 Munekazu Komada, Niina Kiriyama, Rei Sugiyama, Kazuma Harada, Norihito Kawashita
During pregnancy, the maternal environment is critical for normal ontogeny and central nervous system development. Occasionally, prenatal exposure to environmental factors affects tissue architecture and functional development of the brain, which causes developmental disorders, including disorders of the autism spectrum. One of these environmental factors is the exposure to infectious diseases during
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Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis Congenit. Anom. (IF 1.3) Pub Date : 2024-03-26 Bindey Kumar, Priyankar Singh, Alok Ranjan, Tulika Singh, Nimmi Singh, Kriti, Swati Singh, Siddharth Singh, Navin Mishra, Arbind Kumar Sharma
The aim was to establish a specific and definite connection between non-syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. Studies showing a definite association of CHD with orofacial cleft were included, and studies non-specific of the association of orofacial cleft with CHD were excluded
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Height difference between the right and left metanephroi during early human fetal development Congenit. Anom. (IF 1.3) Pub Date : 2024-03-27 Hana Ishiyama‐Takara, Jun Matsubayashi, Shigehito Yamada, Tetsuya Takakuwa
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest.
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Patterns of primary and secondary defects associated with non‐syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population Congenit. Anom. (IF 1.3) Pub Date : 2024-03-26 Martin Kamau, Krishan Sarna, Symon Guthua, Khushboo Jayant Sonigra, Paul Kimani
Cleft lip and palate deformities substantially burden individuals and families, particularly in low‐income communities. However, a comprehensive understanding of the patterns and distribution of these deformities in Kenya remains limited. This retrospective cross‐sectional study analyzed 647 clinical records from the BelaRisu Foundation registry in Kenya, spanning 2018–2022. After meticulous record
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Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan Congenit. Anom. (IF 1.3) Pub Date : 2024-03-26 Kana Hiromoto, Takahiro Yamada, Mio Tsuchiya, Hiroshi Kawame, Eiji Nanba, Yuichi Goto, Shinji Kosugi
In Japan, a limited number of laboratories perform comprehensive genetic testing for rare diseases; this study investigated the attitudes of these laboratories toward the disclosure of secondary finding (SF). Following a preliminary survey, we identified laboratories conducting comprehensive genetic testing for participation. Subsequently, an online survey involving 20 selected facilities was conducted
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Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey Congenit. Anom. (IF 1.3) Pub Date : 2024-03-23 Rebecca Bruns, Khurram Liaqat, Abdul Nasir, Kayla Treat, Vinaya S. Murthy, Lili Mantcheva, Wilfredo Torres, Erin Conboy, Francesco Vetrini
Angelman syndrome (AS, MIM #105830) is a neurodevelopmental disorder characterized by severe intellectual disability, profound developmental delay, movement or balance problems, an excessively cheerful disposition, and seizures. AS results from inadequate expression of the maternal UBE3A gene (MIM #601623), which encodes an E3 ligase in the ubiquitin‐proteasome pathway. Here we present the case of
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Polydactyly appeared in early 13th‐century Chinese painting Congenit. Anom. (IF 1.3) Pub Date : 2024-03-20 Haojie Xu, Dongbo Liu
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Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non‐invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7‐year experience Congenit. Anom. (IF 1.3) Pub Date : 2024-03-08 Xiaojin Luo, Weiqiang Liu, Liang Hu, Xiaoyi Cong, Xiaoyi Liu, Hongyan Niu, Fei Zhou, Gaochi Li, Lijuan Wen, Yanyun Guo
The phenotype of SCA patients are diversities, make prenatal counseling and parental decision‐making following the prenatal diagnosis of SCA more complicated and challenging. NIPT has higher sensitivity and specificity in screening trisomy 21 syndrome, but the effectiveness of NIPT in detecting SCA is still controversial. This study is a large‐scale retrospective cohort of positive SCA screened from
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Risk of major birth defects after first‐trimester exposure to carbocisteine and ambroxol: A multicenter prospective cohort study using counseling data for drug safety during pregnancy Congenit. Anom. (IF 1.3) Pub Date : 2024-03-06 Mariko Usuda, Seung Chik Jwa, Mikako Goto, Mizuki Kobayashi, Hiroyuki Nagano, Naho Yakuwa, Ritsuko Yamane, Atsuko Murashima, Hideki Makabe
To assess the risk of major birth defects after first‐trimester exposure to carbocisteine and ambroxol during pregnancy, we conducted a prospective cohort study using counseling data for drug use during pregnancy provided by the Japan Drug Information Institute in Pregnancy and Toranomon Hospital. Counseling information, including drug usage and participants' demographic information, was collected
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Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report Congenit. Anom. (IF 1.3) Pub Date : 2024-02-29 Takeshi Sato, Chihiro Takata, Jumpei Ito, Hiroyuki Shimada, Tomonobu Hasegawa
Germline APC pathogenic variants (PVs) are found in around 5%–10% of patients with hepatoblastoma.1 Previous studies have shown conflicting opinion about the necessity of the routine genetic testing to identify germline APC PVs.1 To date, candidates for genetic testing and appropriate analysis method remain unknown. Here, we experienced an infantile case of multiple hepatoblastomas with β-catenin positivity
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Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos Congenit. Anom. (IF 1.3) Pub Date : 2024-02-25 Reiko Suzuki, Hajime Imai
Cranial neural crest cells (NCCs) are critical for craniofacial development. The administration of valproic acid (VPA) to pregnant females causes craniofacial malformations in offspring. However, the in vivo influence of VPA on mammalian cranial NCCs remains unclear. In this study, we aimed to elucidate the developmental stage-specific effect of VPA on cranial NCCs through the administration of a single
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Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2 Congenit. Anom. (IF 1.3) Pub Date : 2024-02-18 Yanhong Zhou, Guilan Chen, Fucheng Li, Li Huang, Jin Han
CONFLICT OF INTEREST STATEMENT The authors declare no conflict of interest.
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A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa Congenit. Anom. (IF 1.3) Pub Date : 2024-02-15 Takeshi Sato, Yosuke Ichihashi, Hideo Sugie, Tomohiro Ishii, Tomonobu Hasegawa
Glycogen storage disease type IXa (GSD IXa) results from a defect in the alpha subunit of phosphorylase kinase encoded by PHKA2 with X-linked inheritance. Clinical manifestations include fasting hypoglycemia, hepatomegaly, and growth failure. Various PHKA2 pathogenic variants have been reported, including microdeletions.1 To date, few breakpoints have been identified, and mechanisms causing microdeletions
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Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia Congenit. Anom. (IF 1.3) Pub Date : 2024-02-03 Anar-Erdene Gantugs, Hideto Imura, Ichinnorov Chimedtseren, Ken Kitagawa, Chisato Sakuma, Nagana Natsume, Takayuki Kawana, Byambajargal Badamnyambuu, Motohiro Kurose, Teruyuki Niimi, Hiroo Furukawa, Nagato Natsume
The frequency of cleft lip with/without palate (CL/P) in the Mongolian population is approximately 1 in 1314 live births. This research aims to disseminate information about this congenital disability to the public to better understand CL/P, and people's fissures, and review administrative measures, as there is a lack of research in this area. A questionnaire survey was conducted using Google Forms
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Pyramidalis muscle formation during human embryonic and early fetal periods Congenit. Anom. (IF 1.3) Pub Date : 2024-01-26 Yui Iwasa, Toru Kanahashi, Hirohiko Imai, Hiroki Otani, Shigehito Yamada, Tetsuya Takakuwa
The pyramidalis muscle (PM) is a paired small triangular muscle of the anterior abdominal wall; however, its physiological significance is unclear. Recent studies have failed to detect this muscle during embryonic period. Hence, the present study aimed to determine the time when PM is emerging and reveal its features using high-resolution magnetic resonance imaging. Fourteen embryos between Carnegie
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Directions for perinatal pharmacoepidemiology studies in Japan Congenit. Anom. (IF 1.3) Pub Date : 2024-01-01 Taku Obara
CONFLICT OF INTEREST STATEMENT The author declares no conflict of interest.
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Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy Congenit. Anom. (IF 1.3) Pub Date : 2023-12-10 Naho Yakuwa, Atsuko Murashima, Seiko Miyazaki
Since pregnant women are excluded from clinical trials, it is essential to accumulate post-marketing information to evaluate the effects on the fetus of medication use during pregnancy. The Japan Drug Information Institute in Pregnancy (JDIIP) was established at the National Center for Child Health and Development as a Ministry of Health, Labour, and Welfare project to provide patients with information
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TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis Congenit. Anom. (IF 1.3) Pub Date : 2023-12-07 Kaori Yamoto, Fumiko Kato, Masaya Yamoto, Koji Fukumoto, Kenji Shimizu, Hirotomo Saitsu, Tsutomu Ogata
Congenital tracheal stenosis is a rare life-threatening disorder caused by narrow O-shaped tracheal ring without smooth muscle. Its underlying genetic cause has not been elucidated. We performed whole exome sequencing in a patient with congenital tracheal stenosis and congenital heart defect, and identified a de novo pathogenic TBX5 variant (NM_181486.4:c.680T>C, p.(Ile227Thr)). The Ile227Thr-TBX5
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A retrospective review of the association between maternal body mass index and the risk of congenital anomalies Congenit. Anom. (IF 1.3) Pub Date : 2023-11-14 Vani C. Movva, Brooke Spangler, Amanda J. Young, Michael J. Paglia, Kajal Angras
The objective of the study was to examine the association of congenital anomalies with the specific classes of pre-pregnancy BMI. An IRB-approved retrospective cohort study was performed using the data from the Natality Public Use File from the National Center for Health Statistics (2019). We included all singleton live births and excluded pregnancies with suspected or confirmed chromosomal abnormalities
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Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies Congenit. Anom. (IF 1.3) Pub Date : 2023-09-25 Toko Hayakawa, Hideto Imura, Chisako Inoue, Tomoko Mori, Yoshiko Aihara, Shion Tsujiuchi, Teruyuki Niimi, Nagato Natsume
Since telepractice regulation does not yet exist in Japan, we assessed telepractice efficacy and the level of satisfaction with telepractice versus that with face-to-face practice (FTFP) in speech therapy to establish effective telepractice in Japan. Changes in the number of therapy sessions and therapy levels were compared between telepractice and FTFP sessions conducted during the study period. Additionally
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Late diagnosis of Herlyn-Werner-Wunderlich syndrome: Is there a need for an early screening? Congenit. Anom. (IF 1.3) Pub Date : 2023-09-22 Wissam Arab, Yara Abdelkhalek, Antoine Zoghbi, David Atallah
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest.
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Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background Congenit. Anom. (IF 1.3) Pub Date : 2023-09-19 Jun-ichi Suto
CONFLICT OF INTEREST STATEMENT The authors declare no conflict of interest.
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Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy Congenit. Anom. (IF 1.3) Pub Date : 2023-09-13 Jun-ichi Suto
An autosomal recessive mutation (aht) associated with abnormal hair texture and cardiomyopathy spontaneously arose in the Y-chromosome consomic mouse strain DH-Chr YSS. The aht/aht mouse phenotypes closely resembled those of rul/rul mice, which were caused by a mutation in desmoplakin (Dsp) on chromosome 13. Quantitative trait locus (QTL) mapping using (DDD/Sgn × DH-Chr YSS-aht heterozygotes) F2 mice
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Issue Information Congenit. Anom. (IF 1.3) Pub Date : 2023-09-05
Our study investigated the three-dimensional morphology of the human spleen during the early fetal period. The 3D models of the spleen (yellow arrows) and the surrounding organs were created using fetal MRI (A, B). Spleen morphology was classified into six types based on the number and features of splenic surfaces, indicating that the number of surfaces increased as crown-rump length (CRL) enlarged
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Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital Congenit. Anom. (IF 1.3) Pub Date : 2023-08-31 Tatiana Moreira, Margarida Dias, Madalena Von Hafe, Ana Rita Curval, Carla Ramalho, Ana Maria Maia, Carla Pinto Moura
Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis
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An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft Congenit. Anom. (IF 1.3) Pub Date : 2023-08-16 Mizuki Teramoto, Motoki Katsube, Natsuko Utsunomiya, Yasuhiro Katayama, Hiroki Yamanaka, Itaru Tsuge, Yoshihiro Sowa, Michiharu Sakamoto, Naoki Morimoto
Surgical intervention for alveolar bone formation is important in patients with alveolar cleft; however, the treatment methods and materials are still controversial. A precise evaluation method for postoperative bone formation is important for comparing outcomes and establishing the best treatment protocol. The purpose of this study is to establish a new method of evaluating surgical outcomes for patients
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Hypoalbuminemia in newborns with gastroschisis Congenit. Anom. (IF 1.3) Pub Date : 2023-08-13 Hiroki Goto, Sota Iwatani, Toshihiko Ikuta, Seiji Yoshimoto
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest.
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A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin Congenit. Anom. (IF 1.3) Pub Date : 2023-08-10 Hammal Khan, Kifayat Ullah, Abid Jan, Hamid Ali, Imran Ullah, Wasim Ahmad
A family of Pakistani origin, segregating polydactyly, and phalangeal synostosis in an autosomal dominant manner, has been investigated and presented in the present report. Whole-exome sequencing (WES), followed by segregation analysis using Sanger sequencing, revealed a heterozygous missense variant [c.G1696A, p.(Gly566Ser)] in the LRP4 gene located on human chromosome 11p11.2. Homology protein modeling
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First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology Congenit. Anom. (IF 1.3) Pub Date : 2023-08-04 Xiang-Yi Jing, Li Zhen, Xiao-Mei Lin, Dong-Zhi Li
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest.
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Three-dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period Congenit. Anom. (IF 1.3) Pub Date : 2023-08-01 Natsuko Utsunomiya, Shiori Nakano, Motoki Katsube, Shigehito Yamada
The spleen has variations in its morphology and is considered to acquire a defined shape in the third month of gestation. However, few studies have investigated spleen development during the first 3 months of fetal life. This study aimed to determine the three-dimensional (3D) morphogenesis of the spleen during the third month of gestation. In this study, 30 fetal specimens (crown–rump length [CRL]:
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Long-term clinical course of Heyn-Sproul-Jackson syndrome Congenit. Anom. (IF 1.3) Pub Date : 2023-07-30 Hiroshi Futagawa, Shiho Ito, Kenjiro Kosaki, Hiroshi Yoshihashi
CONFLICT OF INTEREST STATEMENT The authors declare no conflict of interest.
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Predisposing factors of non-syndromic cleft lip and cleft palate in the northern Thai population: A 10-year retrospective case–control study Congenit. Anom. (IF 1.3) Pub Date : 2023-07-29 Chirakan Charoenvicha, Karn Wongkawinwoot, Wachiranun Sirikul, Krit Khwanngern, Wimon Sirimaharaj
The most common congenital anomaly is orofacial cleft, which is categorized into two main types: cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). One of the most accepted etiologies is multifactorial (gene–environment). This study aimed to identify the amendable risk factors of an orofacial cleft in Northern Thailand. A retrospective case–control study in Maharaj Nakorn Chiang
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Odontoma and other congenital dental anomalies: Implications for forensic identification Congenit. Anom. (IF 1.3) Pub Date : 2023-07-28 Nandini Chitara, Deepika Rani, Tanuj Kanchan, Kewal Krishan
Forensic odontology plays a crucial role in establishing the identity in mass disasters and criminal cases with high accuracy. Dental anomalies and features help in such situations. Congenital and developmental dental anomalies can be easily documented to establish distinctive and individualistic characteristics of an individual. The location, number of teeth involved, and the type of anomaly vary
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Evaluation of fetal myocardial performance index in gestational diabetes mellitus Congenit. Anom. (IF 1.3) Pub Date : 2023-07-26 Merve Ozturk, Zahid Agaoglu, Filiz Halici Ozturk, Kadriye Yakut, Fatma Doğa Öcal, Yuksel Oguz, Turhan Caglar
This study aimed to compare fetal myocardial performance index (MPI) between fetuses of pregnant women with gestational diabetes mellitus (GDM) and healthy controls and to evaluate the relationship between MPI and maternal glucose levels. This was a prospective study of 90 pregnant women, including 50 pregnancies with GDM (27 pregnancies with insulin-regulated GDM and 23 pregnancies with diet-regulated
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Perinatal diagnosis of congenital urogenital sinus abnormality Congenit. Anom. (IF 1.3) Pub Date : 2023-06-05 Riccardo Fiorentino, Saverio La Bella, Valentina Chiavaroli, Chiara Cauzzo, Simona Di Credico, Maria Enrica Miscia, Giuseppe Lauriti, Gabriele Lisi, Francesco Chiarelli, Susanna Di Valerio
Anomalies of the urogenital sinus, which is a transient feature of the early human embryological development, are rare birth defects. Urogenital sinus abnormalities commonly present as pelvic masses, hydrometrocolpos, or ambiguous genitalia and most commonly occur within the context of congenital adrenal hyperplasia. Anomalies of the urogenital sinus requires surgical repair. We experienced a case
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Prevention of cleft lip and/or palate in A/J mice by licorice solution Congenit. Anom. (IF 1.3) Pub Date : 2023-06-03 Ichinnorov Chimedtseren, Teruyuki Niimi, Makoto Inoue, Hiroo Furukawa, Hideto Imura, Katsuhiro Minami, Ariuntuul Garidkhuu, Anar-Erdene Gantugs, Nagato Natsume
Cleft lip and/or palate anomalies (CL ± P) are the most frequent birth defects affecting the orofacial region in humans. Although their etiology remains unclear, the involvement of environmental and genetic risk factors is known. This observational study aimed to investigate how the use of crude drugs with estrogen activity influenced an animal model's ability to prevent CL ± P. A/J mice were randomly
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Novel variants in the PAX6 gene related to isolated aniridia Congenit. Anom. (IF 1.3) Pub Date : 2023-05-16 Katarzyna Kuchalska, Anna Wawrocka, Maciej R. Krawczynski
Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused by autosomal dominant PAX6 gene mutations. However, in about 30% of cases, it is associated with chromosomal rearrangements in the 11p13 region. The aim of this study was to identify the potential PAX6 gene variants, which could cause the isolated
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A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis Congenit. Anom. (IF 1.3) Pub Date : 2023-05-01 Hamadia Jan, Naveed Wasif, Syed Kamran-ul-Hassan Naqvi, Imran Ullah, Wasim Ahmad
CONFLICT OF INTEREST STATEMENT The authors have no conflicts of interest to declare.
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Examining the relationship between autism spectrum disorder and neural tube defects Congenit. Anom. (IF 1.3) Pub Date : 2023-04-18 Margaret Hasler, Ülgen S. Fideli, Apryl Susi, Elizabeth Hisle-Gorman
Folate and vitamin B12 deficiencies have been strongly associated with neural tube defects, preliminary research suggests folate and B12 deficiency may also be associated with autism spectrum disorder (ASD). We examined the association between neural tube defects and ASD as a further avenue to examine the hypothesis that ASD is related to maternal folate and B12 deficiency during pregnancy. A retrospective
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Klinefelter syndrome with penoscrotal transposition and diphallia: A case study Congenit. Anom. (IF 1.3) Pub Date : 2023-04-15 Yugo Kawakami, Kentaro Sawano, Nao Shibata, Takayuki Kaneko, Keisuke Nagasaki
CONFLICT OF INTEREST STATEMENT The authors declare no conflict of interest.
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Expanded targeted screening for congenital cytomegalovirus infection Congenit. Anom. (IF 1.3) Pub Date : 2023-03-22 Yumeng Zhang, Tomoko Egashira, Masakazu Egashira, Shun Ogiwara, Hiroyuki Tomino, Akinori Shichijo, Tomoko Mizukami, Tsutomu Ogata, Hiroyuki Moriuchi, Toshimitsu Takayanagi
An early diagnosis and intervention for congenital cytomegalovirus infection can reduce long-term disability; however, the introduction of universal neonatal screening has been controversial worldwide. The present study clarified the outcome of a targeted screening protocol for detecting congenital cytomegalovirus infection based on suggestive perinatal conditions. In addition, the positive rate was
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Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption Congenit. Anom. (IF 1.3) Pub Date : 2023-03-22 Mamiko Yamada, Hisato Suzuki, Fuyuki Miya, Kiyotaka Kosugiyama, Takeshi Ujiie, Hidefumi Tonoki, Kenjiro Kosaki
When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read
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Ureteropelvic junction obstruction (UPJ) due to congenital crossing of the renal vessels (CRV): Comparison of the pre- and postoperative features of UPJO with and without CRV Congenit. Anom. (IF 1.3) Pub Date : 2023-03-22 Süleyman Çelebi
We evaluated the differences in demographic characteristics of patients with and without underlying crossing renal vessels (CRVs) operated for unilateral symptomatic ureteropelvic junction obstruction (UPJO). We identified the features of patients who had undergone open, laparoscopic and robotically assisted laparoscopic pyeloplasty at our institution from July 2000 to January 2021. The ratio of renal
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Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice Congenit. Anom. (IF 1.3) Pub Date : 2023-03-22 Kazuhiko Sawada, Shiori Kamiya
Immunohistochemical staining patterns of markers for neurogenesis staging were compared at the identical stage of cerebellar histogenesis between ferrets (aged 20 days) and mice (aged 10 days). Proliferating cell nuclear antigen (PCNA) immunostaining was observed largely in the granular precursors of the external granular layer (EGL) in both ferrets and mice. PCNA-immunostaining was also found in brain
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Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report Congenit. Anom. (IF 1.3) Pub Date : 2023-03-14 Michele Gaffuri, Ludovica Battilocchi, Domenico di Furia, Simona Neri, Giovanna Cantarella, Lorenzo Pignataro
Congenital laryngeal webs are rare and are defined as thick epithelium-covered fibrous tissue lying between the vocal folds; the anterior glottis is the most common site of involvement, with possible extension to the subglottic region. The association with chromosome 22q11.2 deletion syndrome has also been reported. Symptoms have been abnormal or absent crying and airway obstruction since birth. Management
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Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome Congenit. Anom. (IF 1.3) Pub Date : 2023-01-29 Takako Takano, Tatsuo Masuyama
As noted in a review paper,1 a large-scale study revealed that approximately 1.1%–3.8% of all children with Down syndrome (DS) are born with mosaic DS.2, 3 DS is diagnosed postnatally by chromosome G-banding analysis of peripheral blood cultures, and most patients do not undergo subsequent repeat analysis. We present secular changes in the mosaic ratio of six patients with mosaic DS. The G-banding
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3D printed bionic ear and microtia-anotia: Medical and forensic implications Congenit. Anom. (IF 1.3) Pub Date : 2023-01-21 Deepika Rani, Nandini Chitara, Tanuj Kanchan, Kewal Krishan
Advances in science and technology result in continuous upgrading of the medical and clinical fields. These upgrades have been beneficial to many patients suffering from congenital and developmental diseases causing compromised functionality as well as the structural integrity of the affected organs. One such congenital anomaly is the microtia-anotia spectrum, which results in deformities of the external
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Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center Congenit. Anom. (IF 1.3) Pub Date : 2023-01-21 Eviç Zeynep Başar, Yasemin Dogan, Özlem Kayabey, Kadir Babaoğlu
We aim to evaluate the clinical course and outcome of cases with a prenatal diagnosis of ectopia cordis in our center. In this retrospective study, we analyzed clinical variables including gestational age at diagnosis, maternal age, associated cardiac, extracardiac, genetic anomalies and, outcome in prenatally diagnosed ectopia cordis cases in our tertiary referral center. Eight ectopia cordis cases
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An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality Congenit. Anom. (IF 1.3) Pub Date : 2023-01-21 Ayano Ogawa, Yasunori Sasaki, Masahiro Naruse
In patients with clefts, the affection of other congenital malformations on the feeding is unclear. We investigated the other congenital malformations and nutritional intake of neonates with cleft lip and/or palate and examined their relationships associated with cleft type and laterality. The participants included 126 infants under treatment with a presurgical naso-alveolar molding (PNAM) or a Hotz-type
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Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome Congenit. Anom. (IF 1.3) Pub Date : 2023-01-13 Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki
CONFLICT OF INTEREST None.
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