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Malformation syndromes

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https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#1
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791621/speech-language-pathology-aspects-in-a-pediatric-case-of-head-and-neck-arthrogryposis
#2
Jennifer Alvares Trindade, Jordana da Silva Freitas, Liliane Menzen, Carolina Laux, Lisiane de Rosa Barbosa, Maria Cristina de Almeida Freitas Cardoso
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments...
2018: CoDAS
https://www.readbyqxmd.com/read/29789951/sleep-in-children-with-congenital-malformations-of-the-central-nervous-system
#3
REVIEW
Jacqueline F Yates, Matthew M Troester, David G Ingram
PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29783821/-clinical-and-genetic-analysis-of-eleven-pediatric-patients-with-alagille-syndrome
#4
L Guo, S T Zhao, Y Cheng, M Deng, H Li, Y Z Song, X R Cai, Q Zhou
Objective: To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS). Methods: The clinical data of eleven pediatric patients, who were suspected to have AS at the Department of Pediatrics in the First Affiliated Hospital of Jinan University from August 2010 to March 2017, were collected and analyzed. Genomic DNA was extracted from peripheral blood leukocytes of the patients and their parents. For 5 patients collected before March 2006, all JAG1 exons and their flanking sequences were directly sequenced...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29779709/a-mutation-in-transcription-factor-mafb-causes-focal-segmental-glomerulosclerosis-with-duane-retraction-syndrome
#5
Yoshinori Sato, Hiroyasu Tsukaguchi, Hiroyuki Morita, Koichiro Higasa, Mai Thi Nhu Tran, Michito Hamada, Toshiaki Usui, Naoki Morito, Shoichiro Horita, Takao Hayashi, Junko Takagi, Izumi Yamaguchi, Huan Thanh Nguyen, Masayo Harada, Kiyoko Inui, Yuichi Maruta, Yoshihiko Inoue, Fumihiko Koiwa, Hiroshi Sato, Fumihiko Matsuda, Shinya Ayabe, Seiya Mizuno, Fumihiro Sugiyama, Satoru Takahashi, Ashio Yoshimura
Focal segmental glomerulosclerosis (FSGS) is a leading cause of end-stage renal disease in children and adults. Genetic factors significantly contribute to early-onset FSGS, but the etiologies of most adult cases remain unknown. Genetic studies of monogenic syndromic FSGS exhibiting extra-renal manifestations have uncovered an unexpected biological role for genes in the development of both podocytes and other cellular lineages. To help define these roles, we studied two unrelated families with FSGS associated with Duane Retraction Syndrome, characterized by impaired horizontal eye movement due to cranial nerve malformation...
May 17, 2018: Kidney International
https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#6
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29777883/atypical-presentation-of-giant-aneurysm-in-a-pediatric-patient-with-duane-syndrome
#7
Chao-Hung Kuo, Lynn B McGrath, Joseph A Carnevale, Neena I Marupudi, Jeffery G Ojemann, Richard G Ellenbogen, Anthony C Wang
BACKGROUND: Duane syndrome is a congenital eye movement disorder characterized by congenital malformation of the abducens nucleus. Thrombogenic conditions during development may lead to vascular anomalies in Duane syndrome, however, the presence of a giant aneurysm in this patient population is a rarely documented phenomenon. CASE DESCRIPTION: We reported a case of a large cerebral aneurysm in a pediatric patient with Duane syndrome, and performed a review of the literatures to identify other potential cases and associations...
May 16, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29775803/assisted-reproductive-technologies-and-imprinting-disorders-results-of-a-study-from-a-french-congenital-malformations-registry
#8
Audrey Uk, Sophie Collardeau-Frachon, Quentin Scanvion, Lucas Michon, Emmanuelle Amar
INTRODUCTION: Assisted Reproductive Technologies (ART) is increasingly used to help infertile couples to have children around the world. A number of studies have been published reporting an increased risk of major malformations in children born following ART, especially an increased incidence of epigenetic diseases (ED). This study aimed to assess the incidence of epigenetic diseases with affected imprinting genes in infants or children from pregnancies obtained through IVF/ICSI compared to infants or children from pregnancies obtained spontaneously...
May 15, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29775450/-congenital-megacalycosis-in-a-girl-with-unilateral-renal-agenesis
#9
Agnieszka Szmigielska, Grażyna Krzemień, Anna Zacharzewska, Teresa Dudek-Warchoł, Stanisław Warchoł
Renal agenesis occurs in pediatric population with the incidence 1:500- 2000 children. It is more often diagnosed in boys and on the left side of the body. Renal agenesis may be isolated or it may be a part of complex malformation syndrome. Megacalycosis is a very rare anomaly of urinary tract associated with abnormal structure of the kidney pyramids. AIM: The aim of the study was to present for the first time in the medical literature the case of a girl with unilateral renal agenesis and megacalycosis...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29774817/bladder-reconstruction-with-bowel-robot-assisted-laparoscopic-ileocystoplasty-with-mitrofanoff-appendicovesicostomy-in-pediatric-patients
#10
Nimrod S Barashi, Maria Veronica Rodriguez, Vignesh T Packiam, Mohan S Gundeti
Neurogenic bladder occur as a consequence of several conditions, most commonly posterior urethral valves syndrome, spina bifida, tethered cord, sacral agenesis, and Arnold-Chiari malformation. It is characterized by diminished bladder capacity and/or reduced compliance, associated with high-pressure voiding that can lead to deterioration of renal function if left untreated. When medical management fails, bladder reconstruction with bowel (aumentation ileocystoplasty) becomes the treatment of choice for these patients...
May 2018: Journal of Endourology
https://www.readbyqxmd.com/read/29774401/high-levels-of-serum-sclerostin-and-dkk1-in-a-case-of-klippel-tr%C3%A3-naunay-syndrome
#11
P Muto, A Lo Gullo, G Mandraffino, S Loddo, M Atteritano
Klippel-Trénaunay syndrome (KTS) is described as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with bone and soft tissue hypertrophy. We report a case of a 67-year-old postmenopausal Caucasian women with KTS that shows elevated levels of sclerostin and Dickkopf-related protein 1 (DKK1). Dual-energy X-ray absorptiometry (DXA) BMD T-scores at lumbar spine and femur were normal. Serum calcium and phosphorus levels were consistently normal, 25-hydroxyvitamin D (25OHD) < 30 ng/mL, and normal parathyroid hormone (PTH)...
May 17, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#12
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#13
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29773423/management-of-giant-embryonic-vein-in-klippel-tr%C3%A3-naunay-syndrome
#14
Animesh Rathore, Peter Gloviczki, Haraldur Bjarnason
Klippel-Trénaunay syndrome is a rare mixed malformation characterized by congenital varicose veins, low-flow venous and lymphatic malformations, hypertrophy of soft tissue and bone, and capillary malformations. A 35-year-old man with a diagnosis of Klippel-Trénaunay syndrome presented to the clinic with significant pain and swelling in the left leg. Initial conservative management with compression therapy failed. He was then managed surgically with preoperative placement of an inferior vena cava filter (because of a history of deep venous thrombosis and pulmonary embolism), followed by resection of the lateral embryonic vein, ligation of large perforators, and excision of smaller varicosities...
May 14, 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29766551/lower-lip-capillary-malformation-associated-with-lymphatic-malformation-without-overgrowth-part-of-the-spectrum-of-clapo-syndrome
#15
Camila Downey, Juan Carlos López-Gutiérrez, Esther Roé-Crespo, Luis Puig, Eulalia Baselga
Characteristic lower lip capillary malformation of CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformations of the face and neck, Asymmetry, and Partial or generalized Overgrowth) may also occur as an isolated lesion or with only minor anomalies, supporting the concept that there is a spectrum of abnormalities in CLAPO syndrome. Preliminary studies have demonstrated mosaic activating mutations in PIK3CA.
May 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29766474/masses-of-developmental-and-genetic-origin-affecting-the-paediatric-craniofacial-skeleton
#16
REVIEW
Salvatore Stefanelli, Pravin Mundada, Anne-Laure Rougemont, Vincent Lenoir, Paolo Scolozzi, Laura Merlini, Minerva Becker
Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract...
May 15, 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29764572/-a-single-center-study-on-the-incidence-and-mortality-of-preterm-infants-from-2006-to-2016
#17
Jun-Mei Yan, Hui Huang, Qian-Qian Li, Xiao-Yi Deng
OBJECTIVE: To investigate the incidence and mortality rates of preterm infants and the main causes of death. METHODS: The basic information of preterm infants was collected from their medical records and admission/discharge records to analyze the incidence and mortality rates of preterm infants and the causes of their death. RESULTS: There were 76 812 neonates born in the Xuzhou Maternal and Child Health Hospital from January 2006 to December 2016, among whom 5 585 (7...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29763351/concomitant-temporomandibular-joint-ankylosis-and-maxillomandibular-fusion-in-a-child-with-klippel-feil-syndrome-a-case-report
#18
Deepika Pai, Abhay T Kamath, Pushpa Kini, Manish Bhagania, Saurabh Kumar
Klippel-Feil syndrome (KFS) is classically characterized by fusion of any of the two of seven cervical vertebrae. It is identified by the presence of a triad of clinical signs including short neck, limitation of head and neck movements and low posterior hairline. Unusual bony malformations leading to facial asymmetry is the most common oral manifestation associated with KFS. Such maxillomandibular fusion can also result in restricted mouth opening in children. It's a challenge to provide complete rehabilitation in such children...
May 15, 2018: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#19
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29760780/derivative-chromosomes-involving-5p-large-rearranged-segments-went-unnoticed-with-the-use-of-conventional-cytogenetics
#20
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Background: In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar...
2018: Molecular Cytogenetics
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