Congenital Anomalies

The face is a small complex three-dimensional structure composed of various bones and essential organs. Congenital anomalies of those organs represent various deformities; therefore, their quantification has been challenging. Linear measurements, such as lengths or angles between landmarks, called conventional morphometrics, have been used to quantify their phenotypes usually using two-dimensional images, such as photographs or X-ray images. During analysis, geometric information, which refers to the relative position of each structure, is lost...

Evaluation of learning and memory is crucial in juvenile animal toxicity studies (JAS) during the development of CNS active drugs, but there are no currently recommended test methods. We compared the ability of the Morris water maze (MWM) and the Biel water maze (BWM) to detect learning and memory disorder (LMD) using rats inhaled isoflurane (IFN). [Material and methods] Rats were treated with 1% IFN using inhalation on Postnatal Day (PND) 7 for 6 hours. All rats were subjected to the MWM on PND 33 and the BWM on PND 55/57 (Experiment 1), or the BWM on PND 32/33 and the MWM on PND 54/55 (Experiment 2)...

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We investigated folic acid (FA) intake and disturbing factors in pregnant women who visited our center in 2017. Among 1531 pregnant women, 45.1% of women initiated FA supplementation before pregnancy. The risk of failure of supplementation was significantly lower among women of ≥35 (adjusted odds ratio [aOR] 0.43) and 30-34 years of age (aOR: 0.59) in comparison to women of <30 years of age, and among those conceived with timing/artificial insemination of husband (aOR 0.47) and in vitro fertilization/intracytoplasmic sperm injection (aOR 0...

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Several congenital heart diseases (CHD) are present in children with congenital anomalies of the kidney and the urinary tract (CAKUT) in syndromic or nonsyndromic patterns. The purpose of this study was to identify nonsyndromic children with CAKUT who required echocardiographic evaluation and to find the prevalence of CHD in these patients. Retrospective chart review of nonsyndromic patients with CAKUT between 2012 and 2018 was conducted. Types of congenital anomalies of the kidney and urinary tract and echocardiogram reports of the patients, age, gender, prematurity, prenatal diagnosis of CAKUT, and family history were noted...

Intrauterine viruses can infect the decidua and placenta and cause adverse effects on the fetus during gestation. This review discusses the contribution of various viral infections to miscarriage and the molecular mechanisms by which viruses can cause devastating effects on healthy fetuses and induce miscarriage. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as newly emerged coronavirus was considered here, due to the concerns about its role during pregnancy and inducing miscarriage, as well...

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Palatogenesis is affected by many factors, including gene polymorphisms and exposure to toxic chemicals during sensitive developmental periods. Cleft palate is one of the most common congenital anomalies, and ongoing efforts to elucidate the molecular mechanisms underlying palatogenesis is providing useful insights to reduce the risk of this disorder. To identify novel potential regulators of palatogenesis, we analyzed public transcriptome datasets from a mouse model of cleft palate caused by selective deletion of transforming growth factor-β (TGFβ) receptor type 2 in cranial neural crest cells...

A male mouse exhibiting bidirectional circling behavior was identified in a Y- chromosome consomic strain known as DH-Chr YRR . The putative mutation responsible for the circling behavior was inherited in an autosomal recessive manner and was termed circ. To identify its causative gene, we performed exome sequencing; of the 34 candidates discovered, we found a novel nonsynonymous single nucleotide variation in LIM homeobox transcription factor 1 alpha (Lmx1a) (c.394G>C, p.Gly132Arg). The genetic linkage between Lmx1a and circ was confirmed in (♀BALB/cA × ♂DH-Chr YRR -circ/circ) F2 and (♀C57BL/6J × ♂DH-Chr YRR -circ/circ) F2 mice...

Congenital esophageal web is a very rare type of esophageal atresia (EA) and is considered as Type IV atresia in Kluth's classification. Type IV EA is further classified into subgroups according to the location of web and the presence of tracheoesophageal fistula (TEF). Herein, we present a newborn having Type IV1a EA who was initially suspected as isolated EA and has co-existing malrotation together with the review of the literature. A newborn having congenital esophageal web was admitted with antenatal ultrasonography revealing polyhydramnios, dilated stomach, and duodenum...

Velopharyngeal incompetence (VPI) is a motor impairment of the soft palate that can result in functional disorders, such as stuttering. Therefore, therapeutic interventions for VPI should begin at an early stage. We examined the possibility of early detection of motor impairments of the soft palate with ultrasonographic observations. The study was conducted on five individuals without suckling disorders (two males, three females) at 6-9 postnatal weeks of age (Stage 1) and 13-23 postnatal weeks of age (Stage 2)...

We have been conducting a survey on the birth prevalence of orofacial clefts, including cleft lip with or without cleft palate and cleft palate, in the Tokai area in central Japan every year for 37 years. Along with the yearly trends in the birth prevalence of orofacial clefts in that area for the past 37 years, we discuss whether the artificial abortion rate of fetuses with orofacial clefts has increased through the improved performance of ultrasonic imaging equipment. We also compare the yearly trends in the birth prevalence of congenital anomalies, including orofacial clefts, in Japan with those in other countries or areas where artificial abortion due to birth defects is legally permitted, and discuss the impact of improved accuracy of ultrasound imaging on the rate of artificial termination of pregnancy...

Congenital rubella syndrome (CRS) results from maternal rubella virus infection in early pregnancy. Abnormal neuroimaging findings have been analyzed in a small number of CRS patients in the past. However, their clinical significance has been poorly addressed. Therefore, we investigated the neuroimaging findings of 31 patients with CRS from previous studies. The most common finding was parenchymal calcification, which was observed in 18/31 patients (58.1%). A multivariable logistic regression model showed that it was associated with psychomotor or mental retardation (p=0...

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Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a rare non-syndromic defect with an autosomal recessive pattern of inheritance. Sequence variants in the BHLHA9 gene cause MSSD and to date only a few mutations in this gene have been reported. In the present report, we have described a consanguineous Iranian family segregating MSSD in an autosomal recessive manner. The family had two affected siblings showing evidence of camptodactyly in some fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals, and associated single phalanx in both right and left hand...

External genitalia development in mice involves multiple developmental processes under the regulation of various signaling pathways. Wnt5a, one of the major Wnt ligands, is a crucial developmental regulator of outgrowing organs such as the limb, the mandible, and the external genitalia. Defects in Wnt5a signaling has been linked to Robinow's syndrome, a genetic disorder in which male patients manifest a micropenis and defective urethral tube formation. Whereas Wnt5a is required for cell proliferation during embryonic external genitalia outgrowth, its role for urethral tube formation has yet to be understood...

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We studied 27 cases that were post or prenatally diagnosed with body stalk anomaly (BSA) using medical records of prenatal ultrasound findings, pregnancy outcomes, and fetal/neonatal prognosis during 1992 to 2018. Termination of pregnancy was chosen in 15 cases. Of the remaining 12 cases, seven were stillbirths and five were live births. Of seven stillbirths, intrauterine fetal demise occurred before onset of labor in four cases at 17 to 20th weeks of pregnancy. Pregnancy was continued in eight cases. Median gestational age of delivery was 33rd weeks of pregnancy...

The Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders. Common features of EDS include skin hyperextensibility, articular hypermobility, and tissue fragility. It is classified into thirteen subtypes, caused by variations of more than 19 different genes. Among these two subtypes termed as EDS musculocontractural type 1 (EDSMC1/mcEDS-CHST14; MIM# 601776) is caused by biallelic mutations in the CHST14 gene (MIM# 608429) on chromosome 15q14 and EDS musculocontractural type 2 (EDSMC2/mcEDS-DSE;MIM#615539) is caused by a mutation in DSE(MIM# 605942)on chromosome 6q22...