Congenital Anomalies

Article	Citations
Role of chimeric transcript formation in the pathogenesis of birth defects	13
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	11
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	10
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	8
Congenital heart diseases and parental occupational exposure in a Hungarian case‐control study in 1997 to 2002	8
Application of geometric morphometrics for facial congenital anomaly studies	8
Stage‐dependent function of Wnt5a during male external genitalia development	8
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	5
“Unexpected event”: Having an infants with cleft lip and/or palate	5
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	5
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	4
Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet‐Biedl syndrome in a Chinese family	4
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	4
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation	4
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	4
Congenital anomalies in breech presentation: A nationwide record linkage study	4
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family	4
Mini‐microform cleft lip with complete cleft alveolus and palate: A case report	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
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)	3
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant	3
Severe fetal anemia as a consequence of extra‐abdominal umbilical vein varix: A case report and review of the literature	3
Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review	3
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	3
Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly	3

Examining the relationship between autism spectrum disorder and neural tube defects	3
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	3
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study	3
Analysis of triptan use during pregnancy in Japan: A case series	3
Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome	3
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	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
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	3
Involvement of homeobox transcription factor Mohawk in palatogenesis	2
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement	2
Posterior cloaca: A rare subtype of a complex anorectal malformation	2
Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes	2
Evaluation of fetal myocardial performance index in gestational diabetes mellitus	2
Perinatal diagnosis of congenital urogenital sinus abnormality	2
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	2
Novel variants in the PAX6 gene related to isolated aniridia	2
External ear anatomy and variations in neonates	2
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	2
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	2
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases	2
Expanded targeted screening for congenital cytomegalovirus infection	2
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction	1
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly	1
Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	1
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	1
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
Response to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”—“Misinterpreted facial foramen”	1
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	1
Pyramidalis muscle formation during human embryonic and early fetal periods	1
Sixtieth Annual Meeting of the Japanese Teratology Society: Strides made in congenital anomaly research in the past 60 years and future progress	1
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	1
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	1
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	1
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	1
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India	1
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	1
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	1
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	1
Obituary for Dr. Robert L. Brent	1
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	1
Germline mosaicism in a collagen VI‐related myopathy family: A cause of autosomal recessive inheritance	1
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	1
Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism	1
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	1
A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1

Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	1
Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	1
A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	1
Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	1
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	1
Upper lip abscess due to congenital sinus infection: A case report	1
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Polydactyly appeared in early 13th‐century Chinese painting	0
Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review	0
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Congenital three generation wide familial non‐syndromic polydactyly	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
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	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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Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report	0
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey	0
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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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Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	0
Case of feeding disorder due to lymphangioma of the tongue: Importance in developing countries	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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Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	0
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How commonly can we see esophageal atresia in both dizygotic twins?	0
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	0
Breast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay‐Marks syndrome)	0
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Prevention of cleft lip and/or palate in A/J mice by licorice solution	0
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	0
First‐trimester prenatal diagnosis of Coffin‐Siris syndrome‐related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology	0
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	0
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Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	0
Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
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Height difference between the right and left metanephroi during early human fetal development	0
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Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	0
Pregnancy outcomes after first‐trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions	0
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A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia	0
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A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV1a membranous esophageal atresia	0
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A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa	0
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	0
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	0
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Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	0
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	0
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Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	0
3D printed bionic ear and microtia‐anotia: Medical and forensic implications	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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Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	0
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound	0
A systematic review of maternal diabetes and congenital skeletal malformation	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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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
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database	0
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
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Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18	0
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	0
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Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos	0
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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Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment	0
The Japanese Teratology Society 61st Annual Meeting	0
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Congenital cytomegalovirus and pulmonary hypertension	0
Montelukast use in pregnancy: A systematic review and meta‐analysis of maternal and fetal outcomes in asthma treatment	0
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Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	0
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Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	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
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	0
Directions for perinatal pharmacoepidemiology studies in Japan	0
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Expectant management of pregnancy involving fetus with lower urinary tract obstruction	0
Low pup survival rate is associated with maternal Naq3 genotype and hypothalamic Vps8 expression levels in mice	0
Hypoalbuminemia in newborns with gastroschisis	0
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Odontoma and other congenital dental anomalies: Implications for forensic identification	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
Cleft lip in oto‐palato‐digital syndrome type I	0
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	0
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Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	0
Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	0
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	0
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A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	0
Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	0
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Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	0
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