keyword
MENU ▼
Read by QxMD icon Read
search

Malformation syndromes

keyword
https://www.readbyqxmd.com/read/27915340/2q33-1q34-deletion-in-a-girl-with-brain-anomalies-and-anorectal-malformation
#1
Luisa Ronzoni, Antonio Novelli, Giulia Brisighelli, Angela Peron, Fabio Triulzi, Vera Bianchi, Ernesto Leva, Maria F Bedeschi
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations...
December 3, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27911244/neurosurgical-management-in-lateral-meningocele-syndrome-case-report
#2
Erik C Brown, Kunal Gupta, Christina Sayama
Lateral meningocele syndrome (LMS) is a rare genetic connective tissue disorder. It is associated with morphological changes similar to those of other connective tissue disorders, with the unique distinction of multiple, often bilateral and large, lateral meningoceles herniating through the spinal foramina. In some cases, these lateral meningoceles can cause pain and discomfort due to their presence within retroperitoneal tissues or cause direct compression of the spinal nerve root exiting the foramen; in some cases compression may also involve motor weakness...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#3
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27908676/effect-of-selective-dorsal-rhizotomy-on-daily-care-and-comfort-in-non-walking-children-and-adolescents-with-severe-spasticity
#4
A I Buizer, P E M van Schie, E A M Bolster, W J van Ouwerkerk, R L Strijers, L A van de Pol, A Stadhouder, J G Becher, R J Vermeulen
BACKGROUND: In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort. AIM: To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions. METHODS: Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m-4y 3m)...
October 22, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27907955/decompressive-craniectomy-in-neurocritical-care
#5
Erik G Hayman, David B Kurland, Zachary Grunwald, Sebastian Urday, Kevin N Sheth, J Marc Simard
Neurosurgeons increasingly use decompressive craniectomy (DC) in neurocritical care. In this review, the authors summarize the topic of DC for the neurointensivist. Following a brief overview of the procedure, the major indications for the procedure are described. This includes a review of the literature regarding well-established indications, such as infarction and traumatic brain injury, as well as lesser known indications, including intracerebral hemorrhage, ruptured cerebrovascular malformations, sinus thrombosis, and infection...
December 2016: Seminars in Neurology
https://www.readbyqxmd.com/read/27906905/description-of-13-infants-born-during-october-2015-january-2016-with-congenital-zika-virus-infection-without-microcephaly-at-birth-brazil
#6
Vanessa van der Linden, André Pessoa, William Dobyns, A James Barkovich, Hélio van der Linden Júnior, Epitacio Leite Rolim Filho, Erlane Marques Ribeiro, Mariana de Carvalho Leal, Pablo Picasso de Araújo Coimbra, Maria de Fátima Viana Vasco Aragão, Islane Verçosa, Camila Ventura, Regina Coeli Ramos, Danielle Di Cavalcanti Sousa Cruz, Marli Tenório Cordeiro, Vivian Maria Ribeiro Mota, Mary Dott, Christina Hillard, Cynthia A Moore
Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceará with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted...
December 2, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27902933/the-fda-approved-drug-sofosbuvir-inhibits-zika-virus-infection
#7
Kristen M Bullard-Feibelman, Jennifer Govero, Zhe Zhu, Vanessa Salazar, Milena Veselinovic, Michael S Diamond, Brian J Geiss
The rapidly expanding Zika virus (ZIKV) epidemic has affected thousands of individuals with severe cases causing Guillain-Barré syndrome, congenital malformations, and microcephaly. Currently, there is no available vaccine or therapy to prevent or treat ZIKV infection. We evaluated whether sofosbuvir, an FDA-approved nucleotide polymerase inhibitor for the distantly related hepatitis C virus, could have antiviral activity against ZIKV infection. Cell culture studies established that sofosbuvir efficiently inhibits replication and infection of several ZIKV strains in multiple human tumor cell lines and isolated human fetal-derived neuronal stem cells...
November 27, 2016: Antiviral Research
https://www.readbyqxmd.com/read/27899370/benign-reactive-lymphoid-hyperplasia-of-the-conjunctiva-in-childhood
#8
Adel G AlAkeely, Hind M Alkatan, Adel H Alsuhaibani, Hisham AlKhalidi, Leen Abu Safieh, Sarah E Coupland, Deepak P Edward
BACKGROUND/AIM: Our aim is to the report the clinical and histopathological features of benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva in children and the outcomes of treatment. METHODS: A retrospective chart review was performed for children aged 0-18 years, diagnosed with conjunctival BRLH from January 2000 to December 2013 at two large ophthalmology hospitals in the Middle East. Data were collected on patient demographics, features of the lesions, the site of the lesion, location, adnexal involvement, lymph nodes involvement, local spread, histopathology and molecular genetic studies of the cases (if available), outcomes of treatment and recurrence...
November 29, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27896158/congenital-duodenal-obstruction-in-neonates-over-13-years-experience-from-a-single-centre
#9
Parveen Kumar, Chiranjiv Kumar, Prince Raj Pandey, Yogesh Kumar Sarin
AIM: To study the prevalence of associated anomalies with neonatal duodenal obstruction and factors impacting short-term survival. MATERIAL AND METHODS: Records of 31 neonates with neonatal duodenal obstruction could be retrieved and analyzed for a 13.5-year-period (October 2003-May 2016). M:F ratio was 1.58:1. The mean birth weight was 2.15 kg; 12 patients were preterm. Etiologies included duodenal atresia (n=23), duodenal web (n=8) and malrotation of gut (n= 6)...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#10
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895973/review-of-the-genetic-basis-of-jaw-malformations
#11
REVIEW
Mairaj K Ahmed, Xiaoqian Ye, Peter J Taub
Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. A number of genes play a role in the facial skeletal development and are regulated by a host of additional regulatory molecules...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895452/laparoscopically-assisted-treatment-of-transverse-testicular-ectopia-with-persistent-m%C3%A3-llerian-duct-syndrome-a-case-report-and-review-of-the-literature
#12
I Valioulis, V Simaioforidis, K Syllas
BACKGROUND: Transverse testicular ectopia coexisting with persistent Müllerian duct syndrome is a rare malformation and evidence regarding the optimal treatment of these patients is still unclear. Description of the case: We present the case of a 4-month-old boy in whom laparoscopy was utilized for the surgical correction of transverse testicular ectopia and excision of Müllerian remnants. CONCLUSION: Based on current literature and the presented case, we support that laparoscopy is a feasible and safe procedure in patients with transverse testicular ectopia and persistent Müllerian duct syndrome...
January 2016: Hippokratia
https://www.readbyqxmd.com/read/27891566/sudden-death-associated-with-syndromic-craniosynostosis
#13
Alžbeta Ginelliová, Daniel Farkaš, Silvia Farkašová Iannaccone, Vlasta Vyhnálková, Peter Vasovčák
In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis...
November 28, 2016: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/27891278/becker-s-nevus-syndrome-in-a-pediatric-female-patient
#14
Sara Hernandez-Quiceno, Esteban Uribe-Bojanini, Juan Jose Ramírez-Jiménez, Maria Victoria Lopera-Cañaveral, Martin Toro-Ramos, Yuri Usuga-Arcila, Luis Correa-Londoño, Juan Camilo Martinez, Jennifer Monroy, Juan Manuel Alfaro
Becker's nevus syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker's nevus, ipsilateral breast hypoplasia, and variable skeletal malformations. It is more frequent in males than in females (5 : 1) but is more relevant in females. The diagnosis is clinically based and the skin lesion must be present and no other numbered criteria have been established, but with more criteria being present the possibility of the diagnosis is higher. Regarding the treatment of breast hypoplasia, the use of antiandrogen medication has demonstrated adequate clinical response in a dose of 50 mg/day of spironolactone...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27888223/adams-oliver-syndrome-associated-with-gastrointestinal-malformations
#15
Lisa van Geyzel, Caroline Gribbon, Sarah Bradley, Donovan Duffy
No abstract text is available yet for this article.
November 25, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27887934/currarino-syndrome-in-a-fetus-infant-child-and-adolescent-spectrum%C3%A2-of-clinical-presentations-and-imaging-findings
#16
REVIEW
Pablo Caro-Domínguez, Juan Bass, Julie Hurteau-Miller
In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tends to vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipation or neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required for proper investigation...
November 22, 2016: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
https://www.readbyqxmd.com/read/27885298/klippel-trenaunay-syndrome-a-case-report
#17
R K Sah, S Sharma, S Ghimire, B B Bagale, M Kayastha, R H Chapagain
Klippel-Trenaunaysyndrome(KTS) is a rare congenital condition usually presenting with port wine stains, excessive growth of bones and soft tissue and varicose veins which most commonly occurs in the legs, but it also may affect the arms, face, head, or internal organs. We report a case of term male neonate with clinical findings of Port-wine stain, multiple cystic swellings with ultrasonographic findings suggestive of vascular malformations and limb abnormalities in the form ofsoft tissue hypertrophy of right upper limb, polydactyly of right hand and syndactyly of left hand consistent withKlippel-Trenaunay syndrome...
May 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/27885296/outcome-of-twin-deliveries-at-a-tertiary-care-centre-of-eastern-nepal
#18
S Chaudhary, R R Singh, G S Shah, J Agrawal, S Kafle, L Shah
BACKGROUND: Twins, compared to singletons, have higher perinatal mortality and morbidity. The aim of this study was to describe the twinning rate, epidemiological variables and hospital outcome of twin deliveries and to find out ways of better management of twins in our part. METHODS: A retrospective evaluation of the outcome of 92 twin pregnancies during one year study period (1st January 2014 to 31st December 2014) was conducted at BPKIHS. Twins delivered within the institution were included but cases less than 28 weeks gestation were excluded...
May 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/27882259/right-lung-agenesis-with-tracheal-stenosis-due-to-complete-tracheal-rings-and-postpneumonectomy-like-syndrome-treated-with-tissue-expander-placement
#19
Yashwant Agrawal, Sandeep Patri, Jagadeesh K Kalavakunta
Congenital lung agenesis is an extremely rare condition with an estimated prevalence of 34 in 1,000,000 live births. It is often associated with other congenital malformations of the skeletal, cardiovascular, urogenital, and gastrointestinal systems. We discuss the case of a 5-month-old who presented with increasing stridor over 1 month. Imaging revealed right lung agenesis, complete dextromalposition of heart, and compression of distal trachea. An intrathoracic saline tissue expander was placed which marked improved distal tracheal stenosis...
2016: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/27881329/oral-features-and-computerized-rehabilitation-of-a-young-patient-with-charge-syndrome-using-minimally-invasive-long-term-interim-cad-cam-restorations
#20
Anja Liebermann, Caroline Freitas Rafael, Daniel Edelhoff, Marc Ramberger, Josef Schweiger, Claudia Angela Maziero Volpato, Reza Saeidi Pour
Patients with CHARGE syndrome (where CHARGE stands for coloboma of the iris or retina, heart defects or cardiac malformations, atresia/stenosis of the choanae, retardation of growth and development, genital anomalies, and ear abnormalities) present several orofacial anomalies. Their treatment depends on the specific type of manifestation. To perform the complex oral rehabilitation and achieve a conservative, esthetic, and functional exploration of the definitive treatment goal, computer-aided design and computer-aided manufacturing (CAD-CAM) polymers can be used as long-term interim restorations...
October 27, 2016: Journal of Prosthetic Dentistry
keyword
keyword
14024
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"