Congenital Anomalies

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	11
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	11
Announcement	10
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	10
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	10
Issue Information	9
Announcement	8
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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
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	5
Announcement	5
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Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	5
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	4
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	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
Pyramidalis muscle formation during human embryonic and early fetal periods	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
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
Issue Information	3
Reviewers	3
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	3
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	3

Risk factors for isolated congenital heart defects in infants from Western Mexico	3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	3
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	2
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	2
Issue Information	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
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
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	2
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	2
Issue Information	2
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	2
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	2
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant	2
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
Acknowledgement	2
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	1
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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
Height difference between the right and left metanephroi during early human fetal development	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
Announcement	1
Issue Information	1
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	1
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	1
Issue Information	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Hypoalbuminemia in newborns with gastroschisis	1
Improvement of speech function in submucous cleft palate through conservative treatment	1
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	1
Obituary for Dr. Robert L. Brent	1
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Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1
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MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	1
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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
How commonly can we see esophageal atresia in both dizygotic twins?	1
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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
Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	0
Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	0

Congenital three generation wide familial non‐syndromic polydactyly	0
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	0
Issue Information	0
Stage‐dependent function of Wnt5a during male external genitalia development	0
An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	0
Expanded targeted screening for congenital cytomegalovirus infection	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
Perinatal diagnosis of congenital urogenital sinus abnormality	0
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	0
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction	0
Pregnancy outcomes after first‐trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions	0
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Prevention of cleft lip and/or palate in A/J mice by licorice solution	0
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	0
Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	0
The Japanese Teratology Society 61st Annual Meeting	0
Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	0
A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings	0
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Acknowledgments	0
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	0
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	0
Congenital cytomegalovirus and pulmonary hypertension	0
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Feelings and thoughts about life selection in pregnant women undergoing non‐invasive prenatal testing in Japan	0
3D printed bionic ear and microtia‐anotia: Medical and forensic implications	0
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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
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	0
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Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review	0
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Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment	0
A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV1a membranous esophageal atresia	0
Polydactyly appeared in early 13th‐century Chinese painting	0
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study	0
Announcement	0
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey	0
Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
Novel variants in the PAX6 gene related to isolated aniridia	0
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Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review	0
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Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review	0
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	0
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	0
Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome	0
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	0
Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	0
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	0
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	0
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Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	0
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination	0
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	0
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	0
Announcement	0
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia	0
A systematic review of maternal diabetes and congenital skeletal malformation	0
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Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	0
A cohort study on structural analysis of congenital anomalies in an intensive care unit in Azerbaijan	0
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A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	0
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	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
External ear anatomy and variations in neonates	0
Issue Information	0
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound	0
Reviewers	0
Abstracts	0

Evaluation of fetal myocardial performance index in gestational diabetes mellitus	0
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	0
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant	0
The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia	0
Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	0
Abstracts	0
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Experimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice	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
First‐trimester prenatal diagnosis of Coffin‐Siris syndrome‐related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology	0
Expectant management of pregnancy involving fetus with lower urinary tract obstruction	0
Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report	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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Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly	0
Involvement of homeobox transcription factor Mohawk in palatogenesis	0
Upper lip abscess due to congenital sinus infection: A case report	0
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Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene	0
Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	0
Posterior cloaca: A rare subtype of a complex anorectal malformation	0
Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos	0
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A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family	0
Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18	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
A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	0
Identification of a novel mutant allele of LIM homeobox transcription factor 1 alpha (dreher) in mice	0
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Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	0
A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa	0
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
Issue Information	0
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases	0
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 cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement	0
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	0
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	0
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Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	0
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	0
Montelukast use in pregnancy: A systematic review and meta‐analysis of maternal and fetal outcomes in asthma treatment	0
Odontoma and other congenital dental anomalies: Implications for forensic identification	0
Announcement	0
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	0
Directions for perinatal pharmacoepidemiology studies in Japan	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
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	0