Congenital Anomalies

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	18
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	16
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives	13
Announcement	13
Announcement	8
Issue Information	7
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	7
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	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
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Issue Information	6
Examining the relationship between autism spectrum disorder and neural tube defects	6
Announcement	6
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus	5
Risk factors for isolated congenital heart defects in infants from Western Mexico	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
Comparative study on detectability of learning and memory disorder between two water maze tests commonly used in juvenile rat toxicity studies using isoflurane inhaled rat model	5
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	5
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	4
Reviewers	4
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	4
Issue Information	4
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	4
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	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	3
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	3
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	3
Application of geometric morphometrics for facial congenital anomaly studies	3
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU ‐related neurodevelopmental disorder associated with a novel nonsense varian	3
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	3
Issue Information	3
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	3
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	3
Fetoscopic surgery for amniotic band syndrome: Case series	2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	2
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study	2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	2
Analysis of triptan use during pregnancy in Japan: A case series	2
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Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	2
Acknowledgement	2
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8	2
How commonly can we see esophageal atresia in both dizygotic twins?	2
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	2
Issue Information	2
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Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	2
Improvement of speech function in submucous cleft palate through conservative treatment	2
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Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	2
Issue Information	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
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	1
Issue Information	1
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
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	1
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	1
Issue Information	1
Hypoalbuminemia in newborns with gastroschisis	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	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
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1
Refractory congenital chylous ascites—Case report of a successful surgical management	1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
Height difference between the right and left metanephroi during early human fetal development	1
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Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	0
Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review	0
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	0
Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos	0
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	0
Announcement	0
Congenital cytomegalovirus and pulmonary hypertension	0
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	0
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
Expectant management of pregnancy involving fetus with lower urinary tract obstruction	0
Radiation‐induced congenital malformations in Fukushima after the Fukushima Daiichi Nuclear Disaster	0
The Japanese Teratology Society 61st Annual Meeting	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
Issue Information	0
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	0
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination	0
Acknowledgments	0
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	0
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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	0
Identification of a novel mutant allele of LIM homeobox transcription factor 1 alpha (dreher) in mice	0
Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From Türkiye	0
Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer	0
Montelukast use in pregnancy: A systematic review and meta‐analysis of maternal and fetal outcomes in asthma treatment	0
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	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
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Announcement	0
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Abstracts	0
Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	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
Odontoma and other congenital dental anomalies: Implications for forensic identification	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
Congenital Anomaly Trends in Vietnam: A 16‐Year Analysis	0
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	0
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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
Prevention of cleft lip and/or palate in A/J mice by licorice solution	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
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	0
Issue Information	0
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	0
A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	0
A systematic review of maternal diabetes and congenital skeletal malformation	0
Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	0
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Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment	0
Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18	0
Evaluation of fetal myocardial performance index in gestational diabetes mellitus	0
3D printed bionic ear and microtia‐anotia: Medical and forensic implications	0
Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	0
Issue Information	0
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	0
Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene	0
Feelings and thoughts about life selection in pregnant women undergoing non‐invasive prenatal testing in Japan	0
Complementary mRNA expression of enzymes producing nitric oxide and prostaglandin in ductus arteriosus with respect to their role in maintaining patency	0
Expanded targeted screening for congenital cytomegalovirus infection	0
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	0
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	0
Cervical vertebrae fusion in elbow knee synostosis ( Eks )‐mutant mice with fibroblast growth factor 9	0
Issue Information	0
Polydactyly appeared in early 13th‐century Chinese painting	0
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia	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
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Announcement	0
Abstracts	0
Issue Information	0
Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report	0
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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The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia	0
A cohort study on structural analysis of congenital anomalies in an intensive care unit in Azerbaijan	0
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Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	0
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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
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	0
External ear anatomy and variations in neonates	0
A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa	0
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A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	0
Spinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature	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
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	0
Pregnancy outcomes after first‐trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions	0
Congenital three generation wide familial non‐syndromic polydactyly	0
Novel variants in the PAX6 gene related to isolated aniridia	0
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	0
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	0
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	0
Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low‐risk and screening naïve Indian antenatal women	0
Reviewers	0
Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	0
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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	0
Announcement	0
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
Issue Information	0
Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	0
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Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	0
Upper lip abscess due to congenital sinus infection: A case report	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
Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review	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
Involvement of homeobox transcription factor Mohawk in palatogenesis	0
Directions for perinatal pharmacoepidemiology studies in Japan	0
Issue Information	0