A pure 21q22.3 deletion identified in a patient with mild phenotypic features
Abstract
Partial deletions at the chromosome 21 have been rarely reported and in the majority of descriptions are associated with ring chromosome 21, resulting in terminal deletions of 21q22.3 and a large phenotypic variability (Roberson et al.,2011). (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Il ária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa‐Mendes, Társis Paiva Vieira, Vera Lúcia Gil‐da‐Silva‐Lopes Tags: Note Source Type: research
Transcription factor Foxc1 is involved in anterior part of cranial base formation
In this study, we found that the spontaneous loss of Foxc1 function mouse (congenital hydrocephalous), Foxc1ch/ch, showed the anterior cranial base defects including unossified presphenoid and lack of middle part of the basisphenoid bone. Consistently, hypoplastic presphenoid primordial cartilage (basal portion of the trabecular cartilage) and lack of the middle part of basisphenoid primordial cartilage (the hypophyseal cartilage) were observed at earlier developmental stage. Foxc1 was expressed robustly and ubiquitously in undifferentiated mesenchyme of cranial base forming area in E11.0 wild type fetuses. Once chondrogen...
Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Nandar Mya, Toshiko Furutera, Shigeru Okuhara, Tsutomu Kume, Masaki Takechi, Sachiko Iseki Tags: Original Article Source Type: research
A novel missense mutation of L1CAM in a fetus with isolated hydrocephalus
Abstract
Fetal hydrocephalus is a descriptive diagnosis of symptoms, which can result from numerous causes, including developmental anomalies, chromosomal disorders, genetic syndromes and intrauterine infection (Tully et al. 2014). Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS, OMIM# 307000), also named as X‐linked hydrocephalus, was first described in the 1940s. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li Tags: Note Source Type: research
International volunteer surgical project for cleft lip/cleft palate in Laos
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 28, 2017 Category: Genetics & Stem Cells Source Type: research
X ‐linked VACTERL‐H caused by deletion of exon 3 in FANCB: A case report
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 28, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 28, 2017 Category: Genetics & Stem Cells Source Type: research
Novel sequence variants in the MKKS gene cause Bardet ‐Biedl syndrome with intra‐ and inter‐familial variable phenotypes
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 22, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 22, 2017 Category: Genetics & Stem Cells Source Type: research
Comment on “A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11–13 weeks” by Kose et al.
Congenital Anomalies,Volume 58, Issue 2, Page 77-77, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 21, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies,Volume 58, Issue 2, Page 77-77, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 21, 2017 Category: Genetics & Stem Cells Source Type: research
Comment on: A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11 –13 weeks by Kose et al.
Abstract
congratulations to your excellent article: A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11–13 weeks.
Your work is asking the most important questions clarifying this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 21, 2017 Category: Genetics & Stem Cells Authors: Robert Lachmann Tags: Letter to the Editor Source Type: research
X ‐linked VACTERL‐H Caused by Deletion of Exon 3 in FANCB: A Case Report
Abstract
VACTERL is a congenital malformation characterized by vertebral defects (V), anal atresia (A), cardiac malformation (C), tracheoesophageal fistula (T), esophageal atresia (E), radial or renal dysplasia (R), and limb abnormalities (L) (McCauley et al. 2011). An association of VACTERL with ventriculomegaly or clinical hydrocephalus, known as VACTERL‐H, was reported to have poor prognosis. Here, we report a case of VACTERL‐H with an X‐linked family history and a deleted exon 3 in FANCB. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 12, 2017 Category: Genetics & Stem Cells Authors: Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase Tags: Note Source Type: research
International volunteer surgical project for cleft lip/cleft palate in Laos
Abstract
we read the publication on “Outcomes of an international volunteer surgical project for patients with cleft lip and/or cleft palate: A mission in developing Laos ”with a great interest (Got et al. 2007). Goto et al. (2007) concluded that “This was likely an effect of continuing to train local medical staff in surgical techniques and donating surgical tools and facilities over a period of 16 years while building a good relationship with local staff. However, the healthcare system in Laos is an obstacle to some patients who still cannot undergo CL/P surgery in infancy for financial reasons.” Indeed, the limi...
Source: Congenital Anomalies - December 12, 2017 Category: Genetics & Stem Cells Authors: Beuy Joob, Viroj Wiwanitkit Tags: Letter to the Editor Source Type: research
Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - November 28, 2017 Category: Genetics & Stem Cells Source Type: research
