Congenital Anomalies

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	15
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	14
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives	13
Announcement	12
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	8
Issue Information	7
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	6
Announcement	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	5
Announcement	5
Issue Information	5
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	5
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A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	4
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	4
Risk factors for isolated congenital heart defects in infants from Western Mexico	4
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	4
Pyramidalis muscle formation during human embryonic and early fetal periods	4
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus	4
Examining the relationship between autism spectrum disorder and neural tube defects	4
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	4
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review	4
Issue Information	3
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	3

Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	3
Reviewers	3
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
Application of geometric morphometrics for facial congenital anomaly studies	3
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	3
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	3
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	3
Issue Information	3
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	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
Issue Information	2
Acknowledgement	2
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant	2
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8	2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	2
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	2
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	2
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
Improvement of speech function in submucous cleft palate through conservative treatment	1
How commonly can we see esophageal atresia in both dizygotic twins?	1
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	1
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Issue Information	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Hypoalbuminemia in newborns with gastroschisis	1
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Fetoscopic surgery for amniotic band syndrome: Case series	1
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	1
Refractory congenital chylous ascites—Case report of a successful surgical management	1
Issue Information	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
Height difference between the right and left metanephroi during early human fetal development	1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
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Analysis of triptan use during pregnancy in Japan: A case series	1
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	1
Issue Information	1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database	1
Issue Information	1
Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	0
Issue Information	0
External ear anatomy and variations in neonates	0
Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review	0
A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	0

A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	0
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	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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Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	0
Congenital three generation wide familial non‐syndromic polydactyly	0
Issue Information	0
A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa	0
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	0
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	0
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	0
Issue Information	0
Reviewers	0
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Issue Information	0
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	0
The Japanese Teratology Society 61st Annual Meeting	0
Correction to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”	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
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	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
Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination	0
Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer	0
Acknowledgments	0
Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment	0
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Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene	0
Directions for perinatal pharmacoepidemiology studies in Japan	0
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	0
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Perinatal diagnosis of congenital urogenital sinus abnormality	0
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	0
Abstracts	0
Issue Information	0
Prevention of cleft lip and/or palate in A/J mice by licorice solution	0
Congenital cytomegalovirus and pulmonary hypertension	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
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	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
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	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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Issue Information	0
Novel variants in the PAX6 gene related to isolated aniridia	0
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Polydactyly appeared in early 13th‐century Chinese painting	0
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey	0
Radiation‐induced congenital malformations in Fukushima after the Fukushima Daiichi Nuclear Disaster	0
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound	0
Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	0
Montelukast use in pregnancy: A systematic review and meta‐analysis of maternal and fetal outcomes in asthma treatment	0
Announcement	0
Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18	0
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	0
Patterns of primary and secondary defects associated with non‐syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population	0
Announcement	0
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	0
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	0
Cervical vertebrae fusion in elbow knee synostosis (Eks)‐mutant mice with fibroblast growth factor 9 N143T mutation	0
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	0
Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	0
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	0
Abstracts	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
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia	0
A cohort study on structural analysis of congenital anomalies in an intensive care unit in Azerbaijan	0
Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review	0
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A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings	0
Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	0
Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome	0
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Issue Information	0
Odontoma and other congenital dental anomalies: Implications for forensic identification	0

The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia	0
Announcement	0
Changes in the birth prevalence of orofacial clefts in Japan: Has the birth prevalence of orofacial clefts been affected by improved accuracy of prenatal diagnosis?	0
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	0
Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	0
Issue Information	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
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	0
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	0
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Expanded targeted screening for congenital cytomegalovirus infection	0
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	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
Complementary mRNA expression of enzymes producing nitric oxide and prostaglandin in ductus arteriosus with respect to their role in maintaining patency	0
Expectant management of pregnancy involving fetus with lower urinary tract obstruction	0
Feelings and thoughts about life selection in pregnant women undergoing non‐invasive prenatal testing in Japan	0
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	0
Pregnancy outcomes after first‐trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions	0
Issue Information	0
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly	0
Upper lip abscess due to congenital sinus infection: A case report	0
Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low‐risk and screening naïve Indian antenatal women	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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Evaluation of fetal myocardial performance index in gestational diabetes mellitus	0
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	0
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	0
Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	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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Identification of a novel mutant allele of LIM homeobox transcription factor 1 alpha (dreher) in mice	0
Involvement of homeobox transcription factor Mohawk in palatogenesis	0
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3D printed bionic ear and microtia‐anotia: Medical and forensic implications	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
Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos	0
Announcement	0