Congenital Anomalies

Article	Citations
Association between antidepressant use during pregnancy and congenital anomalies in children: A retrospective cohort study based on Japanese claims data	11
A comparison of the maternal levels of serum proprotein convertase subtilisin/kexin type 9 in pregnant women with the complication of fetal open neural tube defects	10
Role of chimeric transcript formation in the pathogenesis of birth defects	9
Congenital heart diseases and parental occupational exposure in a Hungarian case‐control study in 1997 to 2002	8
Stage‐dependent function of Wnt5a during male external genitalia development	7
Morphologic changes in the cytoskeleton and adhesion apparatus during the conversion from pseudostratified single columnar to stratified squamous epithelium in the developing mouse esophagus	6
Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9	6
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	6
Application of geometric morphometrics for facial congenital anomaly studies	6
Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan	5
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	5
Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney‐urinary tract in pediatric Turner syndrome	4
“Unexpected event”: Having an infants with cleft lip and/or palate	4
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	4
Mini‐microform cleft lip with complete cleft alveolus and palate: A case report	3
Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly	3
L‐NAME, a nitric oxide synthase inhibitor, increases the protein expression of both executioner and inhibitor of apoptosis in the placental bed of mid‐to‐late pregnant rats	3
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family	3
Analysis of triptan use during pregnancy in Japan: A case series	3
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	3
Maternal administration of bisphenol A alters the microglial profile in the neocortex of mouse weanlings	3
Clinical characteristics of congenital toxoplasmosis with poor outcome in Japan: A nationwide survey and literature review	3
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	3
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?	3
Congenital anomalies in breech presentation: A nationwide record linkage study	3

MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	3
ANO5‐associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype	3
Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the “Dr. Juan I. Menchaca” Civil Hospital of Guadalajara (Jalisco, Mexico)	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
Involvement of homeobox transcription factor Mohawk in palatogenesis	2
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	2
Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B	2
An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	2
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	2
Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet‐Biedl syndrome in a Chinese family	2
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	2
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement	2
Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome	2
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation	2
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	2
Severe fetal anemia as a consequence of extra‐abdominal umbilical vein varix: A case report and review of the literature	2
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study	2
Posterior cloaca: A rare subtype of a complex anorectal malformation	2
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases	2
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	1
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	1
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	1
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	1
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	1
Novel variants in the PAX6 gene related to isolated aniridia	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Perinatal diagnosis of congenital urogenital sinus abnormality	1
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	1
High anorectal malformation with atresia of the ascending colon—An unusual association	1
Sixtieth Annual Meeting of the Japanese Teratology Society: Strides made in congenital anomaly research in the past 60 years and future progress	1
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction	1
Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes	1
Examining the relationship between autism spectrum disorder and neural tube defects	1
Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism	1
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India	1
Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	1
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	1
Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review	1
Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	1
Fetoscopic surgery for amniotic band syndrome: Case series	1
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	1
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	1
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly	1
A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	1
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant	1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
Obituary for Dr. Robert L. Brent	1
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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

Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	0
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Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan	0
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Chornobyl radiation—congenital anomalies: A persisting dilemma	0
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations	0
The Japanese Teratology Society 61st Annual Meeting	0
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Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	0
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	0
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	0
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Hypoalbuminemia in newborns with gastroschisis	0
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Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	0
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	0
Expanded targeted screening for congenital cytomegalovirus infection	0
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Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	0
Odontoma and other congenital dental anomalies: Implications for forensic identification	0
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	0
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	0
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	0
Popliteal pterygium syndrome and surgical approach in a preterm neonate	0
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A systematic review of maternal diabetes and congenital skeletal malformation	0
Perinatal benign hypophosphatasia antenatally diagnosed through measurements of parental serum alkaline phosphatase and ultrasonography	0
Prevention of cleft lip and/or palate in A/J mice by licorice solution	0
Low pup survival rate is associated with maternal Naq3 genotype and hypothalamic Vps8 expression levels in mice	0
Pyramidalis muscle formation during human embryonic and early fetal periods	0
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Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	0
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Identification of a novel mutant allele of LIM homeobox transcription factor 1 alpha (dreher) in mice	0
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Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
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Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	0
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Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability	0
A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV1a membranous esophageal atresia	0
External ear anatomy and variations in neonates	0
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Germline mosaicism in a collagen VI‐related myopathy family: A cause of autosomal recessive inheritance	0
Cleft lip in oto‐palato‐digital syndrome type I	0
Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	0
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	0
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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	0
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	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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Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	0
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Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report	0
Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	0
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Neurofibromatosis type 1 due to possible maternal mosaicism in a family with two affected siblings	0
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Global pattern of interkinetic nuclear migration in tracheoesophageal epithelia of the mouse embryo: Interorgan and intraorgan regional differences	0
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Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	0
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A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	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
How commonly can we see esophageal atresia in both dizygotic twins?	0
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
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Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	0
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Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	0
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Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	0
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Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	0
Upper lip abscess due to congenital sinus infection: A case report	0
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Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	0
Directions for perinatal pharmacoepidemiology studies in Japan	0
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Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	0
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	0
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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	0
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	0
Evaluation of fetal myocardial performance index in gestational diabetes mellitus	0
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Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	0
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Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	0
Improvement of delayed growth after treatment in child with congenital chloride diarrhea	0
Breast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay‐Marks syndrome)	0
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Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound	0
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3D printed bionic ear and microtia‐anotia: Medical and forensic implications	0
Case of feeding disorder due to lymphangioma of the tongue: Importance in developing countries	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