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Congenital Anomalies

Rohit S Loomba, Robert H Anderson
No abstract text is available yet for this article.
October 6, 2016: Congenital Anomalies
Yo Niida, Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, Akiko Kato
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. Genotype-phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS...
October 3, 2016: Congenital Anomalies
Adrijan Sarajlija, Martin Magner, Maja Djordjevic, Bozica Kecman, Blagoje Grujic, Marketa Tesarova, Predrag Minic
No abstract text is available yet for this article.
September 20, 2016: Congenital Anomalies
Takashi Mishima, Michiko Watari, Yutaka Iwaki, Takumi Nagai, Miho Kawamata-Nakamura, Yukako Kobayashi, Satoko Fujieda, Mamoru Oikawa, Nobuhiro Takahashi, Mitsuaki Keira, Hiroshi Yoshida, Hidefumi Tonoki
Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves which will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker syndrome postnatally. G banded chromosome analysis revelaed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique...
September 20, 2016: Congenital Anomalies
Shalini S Nayak, Smrithi Salian, Anju Shukla, Mary Mathew, Katta M Girisha
We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A > T in FRAS1. We would like to highlight variable manifestations of Fraser syndrome and presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.
September 14, 2016: Congenital Anomalies
Muhammad Umair, Afzal Rafique, Asmat Ullah, Farooq Ahmad, Raja Hussain Ali, Abdul Nasir, Muhammad Ansar, Wasim Ahmad
Acromesomelic dysplasia Grebe type (AMDG), characterized by severe knob like non-functional fingers and short acromesomelic limbs, inherited in an autosomal recessive manner. Disease causing sequence variants in the GDF5 (Growth Differentiation Factor 5) gene, located on chromosome 20q11.22, are responsible for causing AMDG. In the study, presented here, two consanguineous families with AMDG were clinically and genetically characterized. After establishing linkage in the two families (A and B) to GDF5 gene on chromosome 20q11...
August 31, 2016: Congenital Anomalies
Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto-Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, 5 Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study...
August 17, 2016: Congenital Anomalies
Ririko Yoshida, Koichi Ishizu, Shigehito Yamada, Chigako Uwabe, Tomohisa Okada, Kaori Togashi, Tetsuya Takakuwa
This study quantitatively characterized cortical gyrus folding over human neocortical development by calculating the gyrification index (GI) in 22 human fetal specimens from 16 to 40 weeks with magnetic resonance imaging data. Gl values remained constant at approximately 1.0 until the fetal specimens reached 500 g body weight and 200 mm crown-ramp length (CRL), respectively, and then increased in correlation with the body weight and CRL. The rostrocaudal GI distribution in the cerebral cortex revealed a correspondence of GI peaks with indentations of early-generated primary sulci at 21 weeks of gestation and more frequently increased GI values in the parieto-occipital region than in the fronto-temporal region at 31 and 40 weeks of gestation...
August 7, 2016: Congenital Anomalies
Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun
This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2...
September 2016: Congenital Anomalies
Yuji Nakajima
D-transposition of the great arteries (TGA) is one of the most common conotruncal heart defects at birth and is characterized by a discordant ventriculoarterial connection with a concordant atrioventricular connection. The morphological etiology of TGA is an inverted or arrested rotation of the heart outflow tract (OFT, conotruncus), by which the aorta is transposed in the right ventral direction to the pulmonary trunk. The rotational defect of the OFT is thought to be attributed to hypoplasia of the subpulmonic conus, which originates from the left anterior heart field (AHF) residing in the mesodermal core of the first and second pharyngeal arches...
September 2016: Congenital Anomalies
Yasumichi Nakajima, Hiroyuki Nakano, Tomoki Sumida, Tomohiro Yamada, Kazuya Inoue, Goro Sugiyama, Katsuaki Mishima, Yoshihide Mori
An 18-year-old woman with mild Crouzon syndrome was referred with malocclusion and mandibular protrusion. Examination revealed Class III canine and molar relationships, hypoplastic maxilla, 1-mm overbite, and -2-mm overjet. Analysis showed 69° sella-nasion-A, 73.6° sella-nasion-B, and -4.6° A point-nasion-B point angles. Polysomnography revealed respiratory disturbance and 6.3% oxygen desaturation indices of 5.4/h and 9.0/h. We performed double-jaw surgery using high Le Fort I osteotomy and bilateral sagittal split ramus osteotomy for midfacial deformity correction...
September 2016: Congenital Anomalies
Tomonobu Kanasugi, Akihiko Kikuchi, Gen Haba, Yuri Sasaki, Chizuko Isurugi, Rie Oyama, Toru Sugiyama
Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney...
September 2016: Congenital Anomalies
Tetsuya Takakuwa, Teppei Koike, Taiga Muranaka, Chigako Uwabe, Shigehito Yamada
The circle of Willis (CW) is a circulatory anastomosis that supplies blood to the brain and adjacent structures. We examined the timing of formation of CW in 20 Japanese human embryo samples by using 3-dimensional reconstruction of serial histological sections. The CW was closed in 1 (n = 6), 2 (n = 8), 2 (n = 3) and 2 (n = 3) samples at Carnegie stages 20, 21, 22, and 23, respectively. The CW was unclosed in 13 samples (unclosed at ACOM alone, 6 samples; ACOM and bilateral P1, 4; left PCOM and right P1, 1; right PCOM and right P1, 1; ACOM and left PCOM, 1)...
September 2016: Congenital Anomalies
Ying Xiang, Jingxia Bian, Zhigang Wang, Yunlan Xu, Qihua Fu
Polydactyly is one of the most common hereditary limb malformations, involving additional digits on the hands and/or feet, which is a very attractive model to appreciate clinical and genetic heterogeneity. A high level of heterogeneity in polydactyly has been identified in different regions. However, such data of the medical literatures for Asian populations are relatively limited. This study was intended to shed light on the phenotypic manifestations of polydactyly in the recruited Chinese population and to characterize the medical literature on this condition...
September 2016: Congenital Anomalies
Do Hyung Lee, Bo-Kyung Je, Doran Hong, Sang-Dae Kim, So-Hee Eun
No abstract text is available yet for this article.
September 2016: Congenital Anomalies
Chiemi Sato, Takuya Ogawa, Risa Tsuge, Momotoshi Shiga, Michiko Tsuji, Yoshiyuki Baba, Kenjiro Kosaki, Keiji Moriyama
Russell-Silver syndrome (RSS) is a congenital anomaly characterized by intrauterine and postnatal growth retardation, typical facial features, fifth-finger clinodactyly, and skeletal asymmetry. Although data on intrauterine and postnatal growth retardation have been reported, there are few reports concerning the typical maxillofacial morphology in individuals with RSS. The aim of this study was to describe the details of this systemic condition and to characterize maxillofacial morphology based on cephalograms in 11 Japanese patients (age range, 3...
September 2016: Congenital Anomalies
Tran Quynh Nhu Nguyen, Makiko Saitoh, Huu Tung Trinh, Nguyen Minh Thien Doan, Yoko Mizuno, Masafumi Seki, Yusuke Sato, Seishi Ogawa, Masashi Mizuguchi
Ellis-van Creveld syndrome (EvC) is a ciliopathy with cardiac anomalies, disproportionate short stature, polydactyly, dystrophic nails and oral defects. To obtain further insight into the genetics of EvC, we screened EVC/EVC2 mutations in eight Vietnamese EvC patients. All the patients had a congenital heart defect with atypical oral and/or skeletal abnormalities. One had compound heterozygous EVC2 mutations: a novel mutation c.769G > T-p.E177X in exon 6 inherited from father and another previously reported c...
September 2016: Congenital Anomalies
Jeon Mi Lee, Sung Huhn Kim, Jae Young Choi
No abstract text is available yet for this article.
July 20, 2016: Congenital Anomalies
(no author information available yet)
No abstract text is available yet for this article.
July 2016: Congenital Anomalies
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