Wissam Arab, Yara Abdelkhalek, Antoine Zoghbi, David Atallah
No abstract text is available yet for this article.
September 22, 2023: Congenital Anomalies
Jun-Ichi Suto
No abstract text is available yet for this article.
September 19, 2023: Congenital Anomalies
Jun-Ichi Suto
An autosomal recessive mutation (aht) associated with abnormal hair texture and cardiomyopathy spontaneously arose in the Y-chromosome consomic mouse strain DH-Chr YSS . The aht/aht mouse phenotypes closely resembled those of rul/rul mice, which were caused by a mutation in desmoplakin (Dsp) on chromosome 13. Quantitative trait locus (QTL) mapping using (DDD/Sgn × DH-Chr YSS -aht heterozygotes) F2 mice demonstrated that aht is contiguous with Dsp on chromosome 13. However, no nucleotide changes were identified in the coding region of Dsp in aht/aht mice by whole-exome sequencing...
September 13, 2023: Congenital Anomalies
Tatiana Moreira, Margarida Dias, Madalena Von Hafe, Ana Rita Curval, Carla Ramalho, Ana Maria Maia, Carla Pinto Moura
Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans-disciplinary team of a tertiary hospital...
August 31, 2023: Congenital Anomalies
Mizuki Teramoto, Motoki Katsube, Natsuko Utsunomiya, Yasuhiro Katayama, Hiroki Yamanaka, Itaru Tsuge, Yoshihiro Sowa, Michiharu Sakamoto, Naoki Morimoto
Surgical intervention for alveolar bone formation is important in patients with alveolar cleft; however, the treatment methods and materials are still controversial. A precise evaluation method for postoperative bone formation is important for comparing outcomes and establishing the best treatment protocol. The purpose of this study is to establish a new method of evaluating surgical outcomes for patients with alveolar cleft. Computed tomography datasets from 20 patients who underwent secondary alveolar bone grafting were obtained before and 1 year after surgery...
August 16, 2023: Congenital Anomalies
Hiroki Goto, Sota Iwatani, Toshihiko Ikuta, Seiji Yoshimoto
No abstract text is available yet for this article.
August 13, 2023: Congenital Anomalies
Hammal Khan, Kifayat Ullah, Abid Jan, Hamid Ali, Imran Ullah, Wasim Ahmad
A family of Pakistani origin, segregating polydactyly, and phalangeal synostosis in an autosomal dominant manner, has been investigated and presented in the present report. Whole-exome sequencing (WES), followed by segregation analysis using Sanger sequencing, revealed a heterozygous missense variant [c.G1696A, p.(Gly566Ser)] in the LRP4 gene located on human chromosome 11p11.2. Homology protein modeling revealed the mutant Ser566 generated new interactions with at least four other amino acids and disrupted protein folding and function...
August 10, 2023: Congenital Anomalies
Xiang-Yi Jing, Li Zhen, Xiao-Mei Lin, Dong-Zhi Li
No abstract text is available yet for this article.
August 4, 2023: Congenital Anomalies
Natsuko Utsunomiya, Shiori Nakano, Motoki Katsube, Shigehito Yamada
The spleen has variations in its morphology and is considered to acquire a defined shape in the third month of gestation. However, few studies have investigated spleen development during the first 3 months of fetal life. This study aimed to determine the three-dimensional (3D) morphogenesis of the spleen during the third month of gestation. In this study, 30 fetal specimens (crown-rump length [CRL]: 22-103 mm) were subjected to magnetic resonance imaging analysis. We manually segmented the spleen, stomach, and adrenal gland, reconstructed 3D models, and analyzed the volume and shape of these organs...
August 1, 2023: Congenital Anomalies
Hiroshi Futagawa, Shiho Ito, Kenjiro Kosaki, Hiroshi Yoshihashi
No abstract text is available yet for this article.
July 30, 2023: Congenital Anomalies
Chirakan Charoenvicha, Karn Wongkawinwoot, Wachiranun Sirikul, Krit Khwanngern, Wimon Sirimaharaj
The most common congenital anomaly is orofacial cleft, which is categorized into two main types: cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). One of the most accepted etiologies is multifactorial (gene-environment). This study aimed to identify the amendable risk factors of an orofacial cleft in Northern Thailand. A retrospective case-control study in Maharaj Nakorn Chiang Mai Hospital was conducted from 2011 to 2020. One hundred and seventeen cases of CL/P and CPO were included...
July 29, 2023: Congenital Anomalies
Nandini Chitara, Deepika Rani, Tanuj Kanchan, Kewal Krishan
Forensic odontology plays a crucial role in establishing the identity in mass disasters and criminal cases with high accuracy. Dental anomalies and features help in such situations. Congenital and developmental dental anomalies can be easily documented to establish distinctive and individualistic characteristics of an individual. The location, number of teeth involved, and the type of anomaly vary between individuals. Similarly, dental malformations also assist greatly in the identification process. Many types of dental anomalies have been studied in the past for their individualistic characteristics in forensic examinations...
July 28, 2023: Congenital Anomalies
Merve Ozturk, Zahid Agaoglu, Filiz Halici Ozturk, Kadriye Yakut, Fatma Doğa Öcal, Yuksel Oguz, Turhan Caglar
This study aimed to compare fetal myocardial performance index (MPI) between fetuses of pregnant women with gestational diabetes mellitus (GDM) and healthy controls and to evaluate the relationship between MPI and maternal glucose levels. This was a prospective study of 90 pregnant women, including 50 pregnancies with GDM (27 pregnancies with insulin-regulated GDM and 23 pregnancies with diet-regulated GDM) and 40 healthy controls. Isovolumetric contraction time (ICT) + isovolumetric relaxation time (IRT)/ejection time (ET) were used to calculate the MPI (MPI = [ICT + IRT]/ET)...
July 26, 2023: Congenital Anomalies
Riccardo Fiorentino, Saverio La Bella, Valentina Chiavaroli, Chiara Cauzzo, Simona Di Credico, Maria Enrica Miscia, Giuseppe Lauriti, Gabriele Lisi, Francesco Chiarelli, Susanna Di Valerio
Anomalies of the urogenital sinus, which is a transient feature of the early human embryological development, are rare birth defects. Urogenital sinus abnormalities commonly present as pelvic masses, hydrometrocolpos, or ambiguous genitalia and most commonly occur within the context of congenital adrenal hyperplasia. Anomalies of the urogenital sinus requires surgical repair. We experienced a case of a female newborn with congenital urogenital sinus abnormality in which the early diagnosis helped us to prevent complications by decompressing the vagina soon after birth...
June 5, 2023: Congenital Anomalies
Ichinnorov Chimedtseren, Teruyuki Niimi, Makoto Inoue, Hiroo Furukawa, Hideto Imura, Katsuhiro Minami, Ariuntuul Garidkhuu, Anar-Erdene Gantugs, Nagato Natsume
Cleft lip and/or palate anomalies (CL ± P) are the most frequent birth defects affecting the orofacial region in humans. Although their etiology remains unclear, the involvement of environmental and genetic risk factors is known. This observational study aimed to investigate how the use of  crude drugs with estrogen activity influenced an animal model's ability to prevent CL ± P. A/J mice were randomly divided into six experimental groups. Five of these groups consumed a drink containing crude drug licorice root extract, with the following weights attributed to each group: 3 g in group I, 6 g in group II, 7...
June 3, 2023: Congenital Anomalies
Katarzyna Kuchalska, Anna Wawrocka, Maciej R Krawczynski
Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused by autosomal dominant PAX6 gene mutations. However, in about 30% of cases, it is associated with chromosomal rearrangements in the 11p13 region. The aim of this study was to identify the potential PAX6 gene variants, which could cause the isolated aniridia. Eight patients with isolated aniridia were included in this study. MLPA analysis allowed in the past to exclude large structural rearrangements of the PAX6 and adjacent genes like WT1...
May 16, 2023: Congenital Anomalies
Hamadia Jan, Naveed Wasif, Syed Kamran-Ul-Hassan Naqvi, Imran Ullah, Wasim Ahmad
No abstract text is available yet for this article.
May 1, 2023: Congenital Anomalies
Michele Gaffuri, Ludovica Battilocchi, Domenico di Furia, Simona Neri, Giovanna Cantarella, Lorenzo Pignataro
Congenital laryngeal webs are rare and are defined as thick epithelium-covered fibrous tissue lying between the vocal folds; the anterior glottis is the most common site of involvement, with possible extension to the subglottic region. The association with chromosome 22q11.2 deletion syndrome has also been reported. Symptoms have been abnormal or absent crying and airway obstruction since birth. Management strategies range from endoscopic division using cold instruments to open surgery for severe webbing. In endoscopic surgery, the need for tubeless anesthesia and spontaneous breathing is fundamental for obtaining the best surgical outcome...
May 2023: Congenital Anomalies
Margaret Hasler, Ülgen S Fideli, Apryl Susi, Elizabeth Hisle-Gorman
Folate and vitamin B12 deficiencies have been strongly associated with neural tube defects, preliminary research suggests folate and B12 deficiency may also be associated with autism spectrum disorder (ASD). We examined the association between neural tube defects and ASD as a further avenue to examine the hypothesis that ASD is related to maternal folate and B12 deficiency during pregnancy. A retrospective case-control study was performed using the Military Health System Data Repository. Cases and matched controls were followed from birth until at least 6 months after their first autism diagnosis...
April 18, 2023: Congenital Anomalies
Yugo Kawakami, Kentaro Sawano, Nao Shibata, Takayuki Kaneko, Keisuke Nagasaki
No abstract text is available yet for this article.
April 15, 2023: Congenital Anomalies
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