Congenital Anomalies

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	23
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	11
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex	9
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives	9
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Announcement	8
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Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	7
Urinary Metabolic Screening Misled the Molecular Diagnosis of Xia–Gibbs Syndrome	7
Evaluating the Role of VAX1 , MAFB	7
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Announcement	6
Examining the relationship between autism spectrum disorder and neural tube defects	6
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	6
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	6
Co‐Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha‐Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p	5
Folic Acid Alleviates X‐Ray Irradiation‐Induced Jaw Malformation in Zebrafish	5
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and sev	4
Risk factors for isolated congenital heart defects in infants from Western Mexico	4
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	4
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus	4
Development and Dissemination of the Japanese Translation of the Mammalian Phenotype Ontology as an Open Resource	4
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	4
Reviewers	4
Pyramidalis muscle formation during human embryonic and early fetal periods	4

Postnatal Bimodal Dynamics and Androgen‐Induced Masculinization of the External Genitalia in Mice	4
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	4
A Case of HNRNPU ‐Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions	3
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8	3
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU ‐related neurodevelopmental disorder associated with a novel nonsense varian	3
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	3
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	3
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study	3
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
Acknowledgement	2
Improvement of speech function in submucous cleft palate through conservative treatment	2
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Morphogenesis of the Extraocular Muscles During the Human Embryonic and Early Fetal Periods	2
The Japanese Teratology Society 65th Annual Meeting July 25–27, 2025	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
Clarithromycin Use in the First Trimester Is Not Associated With Fetal Abnormalities	2
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	2
Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester	2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	2
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Hypoplastic Left Heart Syndrome Variant With Unexpected Early Sudden Death in a Newborn Infant With ZTTK Syndrome	1
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Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	1
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The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database	1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1
Abstracts	1
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Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	1
Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
Multifocal Neuroblastoma in Rubinstein–Taybi Syndrome Harboring a Novel CREBBP Variant Identified	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	1
Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia	1
Cervical vertebrae fusion in elbow knee synostosis ( Eks )‐mutant mice with fibroblast growth factor 9	1
Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low‐risk and screening naïve Indian antenatal women	1
Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer	1
Hypoalbuminemia in newborns with gastroschisis	1
Refractory congenital chylous ascites—Case report of a successful surgical management	1
How Does the Human Herniated Midgut Loop Return to the Abdominal Cavity?	1
Height difference between the right and left metanephroi during early human fetal development	1
Early Intervention for Children With Cleft Palate: First Report on the Wechsler Preschool and Primary Scale of Intelligence at Age Four	1
Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report	0

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Complementary mRNA expression of enzymes producing nitric oxide and prostaglandin in ductus arteriosus with respect to their role in maintaining patency	0
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Correction to: “Patterns of Primary and Secondary Defects Associated With Non‐Syndromic Cleft Lip and Palate: An Epidemiological Analysis in a Kenyan Population”	0
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	0
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Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	0
Worldwide Burden of Urogenital Congenital Anomalies Across Childhood and Adolescence, 1990–2021: Results From the Global Burden of Disease Study 2021	0
Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	0
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Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	0
Case Report: Prenatal Diagnosis of Mucopolysaccharidosis IVA With Slow Growth of Long Bones: Identification of Novel Mutations in the	0
Congenital Anomaly Trends in Vietnam: A 16‐Year Analysis	0
Mosaic Variant in Unilateral Woolly Hair in a Girl With PIK3CA ‐Related Overgrowth Spectrum	0
Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene	0
Questionnaire survey of patient families and dental school students regarding non‐syndromic cleft lip and/or palate in the Federal Democratic Republic of Ethiopia	0
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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	0
A Novel MAF Variant Causing Aymé‐Gripp Syndrome With Transient Anemia	0
A Clinical Study of 2253 Cases of Primary and Secondary Defects Associated With Non‐Syndromic Orofacial Clefts in Somalia: The First Report of Charity Operation by the Bela Risu Foundation in Somalia	0
The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia	0
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A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa	0
Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review	0
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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	0
Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ ‐Like Helicase Variants Presenting With Severe Fetal Growth Restriction	0
Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	0
Feelings and thoughts about life selection in pregnant women undergoing non‐invasive prenatal testing in Japan	0
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Novel variants in the PAX6 gene related to isolated aniridia	0
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A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	0
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey	0
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	0
Recurrent Pneumothorax in PIEZO2 ‐Related Arthrogryposis: Implications for the Mechanosensory Function of PIEZO2	0
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	0
Polydactyly appeared in early 13th‐century Chinese painting	0
Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	0
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Montelukast use in pregnancy: A systematic review and meta‐analysis of maternal and fetal outcomes in asthma treatment	0
Congenital Anomalies and Consanguinity in a Rural Community of Punjab, Pakistan: A Cross‐Sectional Study	0
Announcement	0
Two Cases of Prenatally Suspected Fetal Bartter Syndrome With a Novel Genetic Variant Indicated by Polyhydramnios and Amniotic Fluid Biochemistry	0
Announcement	0
Response to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”—“Misinterpreted facial foramen”	0
Clinical and Genetic Findings in Two Japanese Individuals With SET ‐Related Neurodevelopmental Disorder	0
Correction to “Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester”	0
Abstracts	0
Correction to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”	0
Organ‐Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review	0
Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review	0
Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	0
Using the modified OSA ‐questionnaire to determine the prevalence of a high risk of severe obstructive sleep apnea in children with Down syndrome	0
Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment	0
Morphological Changes in the Lower Esophageal Sphincter During Early Human Fetal Development	0
Morphology and Morphometry of the Human Lens in the Embryonic and Early Fetal Period	0
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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	0
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Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	0
Prevalence of Congenital Abnormalities in Abortuses and Stillbirths in India: A Systematic Review and Meta‐Analysis	0
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Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	0
A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al‐Gazali Skeletal Dysplasia	0
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	0
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	0
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The Suggestive Association Between the NOG rs227731 Polymorphism and Non‐Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort	0
Congenital cytomegalovirus and pulmonary hypertension	0
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	0
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination	0
Synergistic Role of Retinoid and Gata3 Signaling in Olfactory Epithelium Development	0
Odontoma and other congenital dental anomalies: Implications for forensic identification	0
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Aberrant Splicing From an HDAC8 Intronic Variant c.112‐ 15C	0

Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	0
A Novel In‐Frame Deletion of FLNA in X‐Linked Cardiac Valvular Dysplasia With Variable Clinical Sp	0
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Experimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice	0
A cohort study on structural analysis of congenital anomalies in an intensive care unit in Azerbaijan	0
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia	0
DNA Methylation Profiles in Diabetic Embryos	0
Pregnancy outcomes after first‐trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions	0
Evaluation of fetal myocardial performance index in gestational diabetes mellitus	0
Evaluation and Management of Rectoperineal Fistula in Male Children: An Observational Study	0
Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
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Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single‐Center Retrospective Study	0
A C ‐Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta	0
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An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	0
Patterns of primary and secondary defects associated with non‐syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population	0
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	0
Perinatal diagnosis of congenital urogenital sinus abnormality	0
Directions for perinatal pharmacoepidemiology studies in Japan	0
Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From Türkiye	0
Acknowledgement	0
Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	0
A Patient With TRAF7 ‐Related Neurodevelopmental Disorder Without Developmental Delay or Intellect	0
A Case Report of Arrhythmia in ZFHX3 ‐Related Neurodevelopmental Disorder	0
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	0
Prevention of cleft lip and/or palate in A/J mice by licorice solution	0
3D printed bionic ear and microtia‐anotia: Medical and forensic implications	0
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	0
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Spinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature	0
Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos	0
Expectant management of pregnancy involving fetus with lower urinary tract obstruction	0
Clinical Outcomes of Twin Reversed Arterial Perfusion ( TRAP ) Sequence: A Retrospective Analysis From a Tertiary Center	0
Radiation‐induced congenital malformations in Fukushima after the Fukushima Daiichi Nuclear Disaster	0
Expanded targeted screening for congenital cytomegalovirus infection	0
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	0
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	0
Congenital three generation wide familial non‐syndromic polydactyly	0
Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18	0
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	0