Congenital Anomalies

Article	Citations
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	11
Breast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay‐Marks syndrome)	10
Perinatal diagnosis of congenital urogenital sinus abnormality	8
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	8
Announcement	8
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Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	5
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	5
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	4
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	4
Issue Information	4
Announcement	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	4
Involvement of homeobox transcription factor Mohawk in palatogenesis	4
Odontoma and other congenital dental anomalies: Implications for forensic identification	3
3D printed bionic ear and microtia‐anotia: Medical and forensic implications	3
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External ear anatomy and variations in neonates	3
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Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	3
Application of geometric morphometrics for facial congenital anomaly studies	3
Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	3
Abstracts	3
Reviewers	3
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Acknowledgments	3
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Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	3
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Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	2
Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	2
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	2
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	2
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Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review	2
Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	2
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MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	2
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	2
Announcement	2
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	2
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Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Cleft lip in oto‐palato‐digital syndrome type I	1
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	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
Prevention of cleft lip and/or palate in A/J mice by licorice solution	1
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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	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	1
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family	1
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Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	1
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	1
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Height difference between the right and left metanephroi during early human fetal development	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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Announcement	1
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	1
Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia	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
A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV1a membranous esophageal atresia	1
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Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	1
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	1
Hypoalbuminemia in newborns with gastroschisis	1
Novel variants in the PAX6 gene related to isolated aniridia	0
Correction to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”	0
Pyramidalis muscle formation during human embryonic and early fetal periods	0

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Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	0
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	0
The Japanese Teratology Society 61st Annual Meeting	0
Risk factors for isolated congenital heart defects in infants from Western Mexico	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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Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	0
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	0
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study	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
Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy	0
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	0
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	0
Announcement	0
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	0
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	0
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination	0
A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa	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
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Stage‐dependent function of Wnt5a during male external genitalia development	0
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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	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
Evaluation of fetal myocardial performance index in gestational diabetes mellitus	0
Acknowledgement	0
Reviewers	0
Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	0
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	0
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	0
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An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	0
How commonly can we see esophageal atresia in both dizygotic twins?	0
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Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18	0
Expanded targeted screening for congenital cytomegalovirus infection	0
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A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	0
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study	0
Germline mosaicism in a collagen VI‐related myopathy family: A cause of autosomal recessive inheritance	0
Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet‐Biedl syndrome in a Chinese family	0
Feelings and thoughts about life selection in pregnant women undergoing non‐invasive prenatal testing in Japan	0
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Mini‐microform cleft lip with complete cleft alveolus and palate: A case report	0
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	0
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	0
Congenital anomalies in breech presentation: A nationwide record linkage study	0
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	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
Pregnancy outcomes after first‐trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions	0
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	0
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	0
Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene	0
Congenital three generation wide familial non‐syndromic polydactyly	0
Directions for perinatal pharmacoepidemiology studies in Japan	0
Endoscopic surgery under tubeless anesthesia and spontaneous breathing for a congenital laryngeal web in an infant: A case report	0
Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome	0
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A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	0
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases	0
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Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly	0
Examining the relationship between autism spectrum disorder and neural tube defects	0
Expectant management of pregnancy involving fetus with lower urinary tract obstruction	0
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A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	0
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Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	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
Polydactyly appeared in early 13th‐century Chinese painting	0

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Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study	0
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	0
Detection of abnormal behaviors in prenatal Poly(I:C) exposed mice in a group‐rearing environment	0
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Announcement	0
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound	0
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Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	0
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	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
Identification of a novel mutant allele of LIM homeobox transcription factor 1 alpha (dreher) in mice	0
Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos	0
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	0
Announcement	0
Abstracts	0
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Upper lip abscess due to congenital sinus infection: A case report	0
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Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement	0
Fetoscopic surgery for amniotic band syndrome: Case series	0
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant	0
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia	0
Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review	0
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	0
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Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	0
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	0
Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings	0
First‐trimester prenatal diagnosis of Coffin‐Siris syndrome‐related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology	0
Obituary for Dr. Robert L. Brent	0
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	0
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2	0
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	0
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	0
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey	0
Analysis of triptan use during pregnancy in Japan: A case series	0
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	0
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	0
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	0
Case of feeding disorder due to lymphangioma of the tongue: Importance in developing countries	0
An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	0
Congenital cytomegalovirus and pulmonary hypertension	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
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	0
Posterior cloaca: A rare subtype of a complex anorectal malformation	0
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India	0
A systematic review of maternal diabetes and congenital skeletal malformation	0
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly	0
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction	0
Announcement	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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Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	0