Congenital Anomalies

Article	Citations
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex	23
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	20
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	10
Announcement	9
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives	9
Issue Information	8
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	8
Issue Information	8
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Announcement	7
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	7
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	6
Examining the relationship between autism spectrum disorder and neural tube defects	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	6
Risk factors for isolated congenital heart defects in infants from Western Mexico	5
Postnatal Bimodal Dynamics and Androgen‐Induced Masculinization of the External Genitalia in Mice	5
Pyramidalis muscle formation during human embryonic and early fetal periods	5
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and sev	5
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus	5
Reviewers	5
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	4
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	4
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8	4
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	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

Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	4
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	4
A Case of HNRNPU ‐Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions	4
Issue Information	4
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	4
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU ‐related neurodevelopmental disorder associated with a novel nonsense varian	4
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	3
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	3
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	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
The Japanese Teratology Society 65th Annual Meeting July 25–27, 2025	2
Acknowledgement	2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	2
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Refractory congenital chylous ascites—Case report of a successful surgical management	2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
Clarithromycin Use in the First Trimester Is Not Associated With Fetal Abnormalities	2
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Improvement of speech function in submucous cleft palate through conservative treatment	2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester	2
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	2
Issue Information	2
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	2
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1
Issue Information	1
Height difference between the right and left metanephroi during early human fetal development	1
Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy	1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	1
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound	1
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	1
How Does the Human Herniated Midgut Loop Return to the Abdominal Cavity?	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
Hypoalbuminemia in newborns with gastroschisis	1
Issue Information	1
Early Intervention for Children With Cleft Palate: First Report on the Wechsler Preschool and Primary Scale of Intelligence at Age Four	1
Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer	1
Issue Information	0
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	0
The Suggestive Association Between the NOG rs227731 Polymorphism and Non‐Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort	0
Acknowledgments	0
Complementary mRNA expression of enzymes producing nitric oxide and prostaglandin in ductus arteriosus with respect to their role in maintaining patency	0
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	0
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey	0

Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	0
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	0
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	0
Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	0
Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low‐risk and screening naïve Indian antenatal women	0
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	0
Montelukast use in pregnancy: A systematic review and meta‐analysis of maternal and fetal outcomes in asthma treatment	0
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Current activities between the DevTox Berlin workshops and the Japanese Teratology Society Terminology Committee in harmonizing the terminology for classifying anomalies in laboratory anima	0
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Response to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”—“Misinterpreted facial foramen”	0
Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
Worldwide Burden of Urogenital Congenital Anomalies Across Childhood and Adolescence, 1990–2021: Results From the Global Burden of Disease Study 2021	0
Evaluation of fetal myocardial performance index in gestational diabetes mellitus	0
A C ‐Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta	0
Issue Information	0
An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	0
Announcement	0
Clinical Outcomes of Twin Reversed Arterial Perfusion ( TRAP ) Sequence: A Retrospective Analysis From a Tertiary Center	0
Directions for perinatal pharmacoepidemiology studies in Japan	0
Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	0
Recurrent Pneumothorax in PIEZO2 ‐Related Arthrogryposis: Implications for the Mechanosensory Function of PIEZO2	0
3D printed bionic ear and microtia‐anotia: Medical and forensic implications	0
Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review	0
Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	0
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Case Report: Prenatal Diagnosis of Mucopolysaccharidosis IVA With Slow Growth of Long Bones: Identification of Novel Mutations in the	0
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	0
Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ ‐Like Helicase Variants Presenting With Severe Fetal Growth Restriction	0
The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia	0
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	0
Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review	0
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Congenital cytomegalovirus and pulmonary hypertension	0
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
Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	0
Novel variants in the PAX6 gene related to isolated aniridia	0
Issue Information	0
Issue Information	0
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	0
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Cervical vertebrae fusion in elbow knee synostosis ( Eks )‐mutant mice with fibroblast growth factor 9	0
Organ‐Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review	0
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	0
Expanded targeted screening for congenital cytomegalovirus infection	0
Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia	0
Morphological Changes in the Lower Esophageal Sphincter During Early Human Fetal Development	0
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	0
Prevalence of Congenital Abnormalities in Abortuses and Stillbirths in India: A Systematic Review and Meta‐Analysis	0
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	0
Abstracts	0
Patterns of primary and secondary defects associated with non‐syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population	0
Issue Information	0
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A cohort study on structural analysis of congenital anomalies in an intensive care unit in Azerbaijan	0
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Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	0
Evaluation and Management of Rectoperineal Fistula in Male Children: An Observational Study	0
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	0
Congenital Anomaly Trends in Vietnam: A 16‐Year Analysis	0
Perinatal diagnosis of congenital urogenital sinus abnormality	0
Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	0
Abstracts	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
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External ear anatomy and variations in neonates	0
A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al‐Gazali Skeletal Dysplasia	0
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	0
Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos	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
Experimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice	0
Issue Information	0
Issue Information	0
Spinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature	0
Issue Information	0
A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	0
Congenital three generation wide familial non‐syndromic polydactyly	0
Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene	0
Expectant management of pregnancy involving fetus with lower urinary tract obstruction	0

A Case Report of Arrhythmia in ZFHX3 ‐Related Neurodevelopmental Disorder	0
Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18	0
Pregnancy outcomes after first‐trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions	0
Issue Information	0
A Novel In‐Frame Deletion of FLNA in X‐Linked Cardiac Valvular Dysplasia With Variable Clinical Sp	0
Issue Information	0
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Acknowledgement	0
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	0
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The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	0
Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From Türkiye	0
DNA Methylation Profiles in Diabetic Embryos	0
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia	0
Polydactyly appeared in early 13th‐century Chinese painting	0
Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report	0
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Announcement	0
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	0
Announcement	0
Correction to: “Patterns of Primary and Secondary Defects Associated With Non‐Syndromic Cleft Lip and Palate: An Epidemiological Analysis in a Kenyan Population”	0
A Novel MAF Variant Causing Aymé‐Gripp Syndrome With Transient Anemia	0
First‐trimester prenatal diagnosis of Coffin‐Siris syndrome‐related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology	0
Two Cases of Prenatally Suspected Fetal Bartter Syndrome With a Novel Genetic Variant Indicated by Polyhydramnios and Amniotic Fluid Biochemistry	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
Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment	0
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Correction to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”	0
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination	0
Prevention of cleft lip and/or palate in A/J mice by licorice solution	0
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Issue Information	0
A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa	0
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	0
A Patient With TRAF7 ‐Related Neurodevelopmental Disorder Without Developmental Delay or Intellect	0
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Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single‐Center Retrospective Study	0
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
Issue Information	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
Radiation‐induced congenital malformations in Fukushima after the Fukushima Daiichi Nuclear Disaster	0
Odontoma and other congenital dental anomalies: Implications for forensic identification	0
Morphology and Morphometry of the Human Lens in the Embryonic and Early Fetal Period	0