Read by QxMD icon Read


Antonella Giancotti, Valentina D'Ambrosio, Enrica Marchionni, Antonia Squarcella, Camilla Aliberti, Renato La Torre, Lucia Manganaro, Antonio Pizzuti
PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. METHODS: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed...
October 20, 2016: Journal of Maternal-fetal & Neonatal Medicine
Sankalp Yadav, Gautam Rawal
Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid Craniosynostosis syndrome. The syndrome was first introduced by Sugarman and Vogel' (1981) however, Shprintzen and Goldberg established this as a separate clinical entity in the year 1982. Since then, approximately sixty such cases have been set down in writing in the medical literature. Herein, we present a short review of literature of this rare connective disorder, in order to create awareness about this condition, as the magnitude of this disorder is not measured properly due to the paucity of literature...
2016: Pan African Medical Journal
Catherine Mazzola, Lissa C Baird, David F Bauer, Alexandra Beier, Susan Durham, Paul Klimo, Alexander Y Lin, Catherine McClung-Smith, Laura Mitchell, Dimitrios Nikas, Mandeep S Tamber, Rachana Tyagi, Ann Marie Flannery
BACKGROUND: No evidence-based guidelines exist for the imaging of patients with positional plagiocephaly. OBJECTIVE: The objective of this systematic review and evidence-based guideline is to answer the question, Is imaging necessary for infants with positional plagiocephaly to make a diagnosis? METHODS: The National Library of Medicine Medline database and the Cochrane Library were queried with the use of MeSH headings and key words relevant to imaging as a means to diagnose plagiocephaly...
November 2016: Neurosurgery
Omar N Pathmanaban, Kerry A Burke, Paul Leach, John Thorne, Ian D Kamaly-Asl
BACKGROUND: Positional plagiocephaly is the most common cause of cranial asymmetry. The underlying cause of Chiari-1 malformation has many possible theories, and anecdotally some pediatric neurosurgeons have had experience of severe cases of positional brachycephaly with Chiari-1. However, to date there have been no published cases linking non-synostotic plagiocephaly with Chiari-1 malformation. CASE DESCRIPTION: An 18-month-old boy presented with a head injury...
October 15, 2016: World Neurosurgery
Stephen J Goldie, Benedicta D Arhatari, Peter Anderson, Alana Auden, Darren D Partridge, Stephen M Jane, Sebastian Dworkin
BACKGROUND: Increased apposition of the frontal and parietal bones of the skull during embryogenesis may be a risk factor for the subsequent development of premature skull fusion, or craniosynostosis. Human craniosynostosis is a prevalent, and often serious embryological and neonatal pathology. Other than known mutations in a small number of contributing genes, the aetiology of craniosynostosis is largely unknown. Therefore, the identification of novel genes which contribute to normal skull patterning, morphology and premature suture apposition is imperative, in order to fully understand the genetic regulation of cranial development...
October 18, 2016: BMC Developmental Biology
Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Tatsuki Oyoshi, Nayuta Higa, Hiroshi Tokimura, Kazunori Arita, Toshiyuki Yamamoto
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones...
October 14, 2016: European Journal of Medical Genetics
M Savolainen, A Ritvanen, J Hukki, P Vuola, J Telkkä, J Leikola
Correction of calvarial defects after calvarial vault reconstruction (CVR) is challenging in craniosynostosis patients of advanced age and typically employs autologous bone. Demineralized bone matrix (DBM) is a potential alternative material for autologous bone, but its use has not been extended to correct calvarial defects. CVR patients operated at the Department of Plastic Surgery, Helsinki University Hospital, during 2008-2010 were retrospectively reviewed. Inclusion criteria of the study were CVR patients who received DBM plate, with or without bone dust, on calvarial defects and who had suitable uncovered defect on the contralateral side as control...
September 20, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
M Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, A M Wenger, D L Sureka, T Lester, D S Johnson, J Bowen, A R Calhoun, D H Viskochil, G Bejerano, J A Bernstein, D Chitayat
BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. OBJECTIVES: To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause for this specific form of hyperphalangism. METHODS: Through ongoing collaboration, we had collected patients with strikingly-similar phenotype...
October 13, 2016: Journal of Medical Genetics
Rajiv R Iyer, Rafael Uribe-Cardenas, Edward S Ahn
OBJECTIVE: The objective of this study is to present the novel technique and associated results of a single-incision endoscope-assisted procedure for the treatment of sagittal craniosynostosis. METHODS: We retrospectively reviewed the charts of infants who underwent single-incision endoscope-assisted sagittal craniectomy for craniosynostosis at our institution. Demographic data collected included patient age, blood loss, operative time, pre- and post-operative hemoglobin, pre- and post-operative cephalic index (CI), and hospital length of stay...
October 11, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Dong Ha Park, Soo Han Yoon
OBJECTIVE: Among shunt complications, the post-shunt slit ventricle (PSSV) and the post-shunt craniosynostosis (PSCS) may be managed by shunt valve upgrade and/or cranial expansion surgery. Here, we analyzed 26 children with PSSV and/or PSCS who received simple generalized cranial expansion, i.e., total calvarial trans-sutural distraction osteogenesis (TC-TSuDO). METHODS: Among 254 children with shunt surgery, 26 children received TC-TSuDO. These 26 children included of 14 with PSSV, 4 with PSCS, and 8 with both PSSV and PSCS...
October 3, 2016: World Neurosurgery
James C Wang, Laszlo Nagy, Joshua C Demke
Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes are associated with craniosynostosis. This article describes some commonalities and distinguishing features and management of syndromic synostosis. Also addressed is secondary synostosis, which is often found in syndromic children with problems related to microcephaly, hydrocephalus, or shunt-induced craniosynostosis, although pathophysiologically and genetically different...
November 2016: Facial Plastic Surgery Clinics of North America
Lisa M Morris
This article provides an overview of etiology, epidemiology, pathology, diagnosis, and treatment of nonsyndromic craniosynostosis, including sagittal, metopic, coronal, lambdoid, and complex synostosis. Detailed discussion is presented regarding indications for surgical intervention and management options, including frontoorbital advancement, cranial vault reconstruction, endoscopic strip craniectomy, spring-assisted strip craniectomy, and cranial vault distraction osteogenesis. Deformational plagiocephaly is also presented with treatment options including repositioning, physical therapy, and helmet therapy...
November 2016: Facial Plastic Surgery Clinics of North America
Douglas R Marques, Luís A L Dos Santos, Marie A O'Brien, Sarah H Cartmell, Julie E Gough
The polymeric blend of poly (lactic-co-glycolic acid) (PLGA) and polyisoprene (PI) has recently been explored for application as stents for tracheal stenosis and spring for the treatment of craniosynostosis. From the positive results presented in other biomedical applications comes the possibility of investigating the application of this material as scaffold for tissue engineering (TE), acquiring a deeper knowledge about the polymeric blend by exploring a new processing technique while attending to the most fundamental demands of TE scaffolds...
October 6, 2016: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
E Arnaud, G Paternoster, S James, M-P Morisseau-Durand, V Couloigner, P Diner, C Tomat, V Viot-Blanc, B Fauroux, V Cormier-Daire, G Baujat, M Robert, A Picard, S Antunez, R Khonsari, L Pamphile-Tabuteau, C Legros, M Zerah, P Meyer
The complexity of treatment of faciocraniosynostosis justifies the treatment in a reference center for rare diseases. The growth disturbances in the skull and face being variable according to the type of mutation in the FGFr (Crouzon, Pfeiffer, Apert), the strategy is adapted to the phenotype according to the following principles: posterior expansion with or without distraction around 6 months to limit the descent of the cerebellum tonsils and to prevent the turricephalic development; fronto-facial monobloc advancement with internal distraction around the age of 18 months in case of severe exorbitism or breathing impairment...
October 2016: Annales de Chirurgie Plastique et Esthétique
Yoshihiro Komatsu, Yuji Mishina
Interactions between two gene variants that rarely cause midline craniosynostosis on their own make the development of the disorder a certainty.
September 30, 2016: ELife
Akira Ohishi, Gen Nishimura, Fumiko Kato, Hiroyuki Ono, Kaori Maruwaka, Mako Ago, Hiroshi Suzumura, Etsuko Hirose, Yuki Uchida, Maki Fukami, Tsutomu Ogata
Syndromic craniosynostoses usually occur as single gene disorders. In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). FGFR2 and FGFR3 mutations were identified in 10 of the 11 patients. Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant)...
September 28, 2016: American Journal of Medical Genetics. Part A
Sumito Dateki, Satoshi Watanabe, Fumiko Kinoshita, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi
We herein report a de novo hemizygous 9.2-Mb interstitial deletion of chromosome 11p14.1-15.3 in a 3-year-old Japanese girl with short stature, relative macrocephaly, and delayed closure of cranial fontanelles and sutures. She did not show either any motor or mental development delay. This deletion involves 25 genes including NELL1. The loss of the Nell1 function leads to skeletal defects in the cranial vault and vertebral column, and overexpression of Nell1 causes craniosynostosis in mice. These results imply that short stature and an abnormality of membranous ossification could be explained by haploinsufficiency of NELL1 on 11p14...
September 23, 2016: American Journal of Medical Genetics. Part A
John R Gencarelli, Amanda Murphy, Osama A Samargandi, Michael Bezuhly
Unicoronal craniosynostosis predisposes to ophthalmologic abnormalities such as strabismus, astigmatism, and amblyopia. The authors explored the ophthalmologic outcomes following fronto-orbital advancement (FOA). A systematic search of PubMed, Embase, and the Cochrane Library was conducted. Included studies reported postoperative rates of strabismus, astigmatism, and/or amblyopia. Two independent reviewers performed screening and extracted data including preoperative rates, laterality and severity of findings, need for ocular surgery, and timing of FOA...
October 2016: Journal of Craniofacial Surgery
Tiffany Y Loh, Philip R Cohen
BACKGROUND: Pityriasis rosea is a papulosquamous disease. It may occur during pregnancy; in this setting, it has occasionally been associated with adverse outcomes. PURPOSE: A woman who developed pityriasis rosea at the beginning of her eighth week of gestation is described. The outcomes in newborns delivered by pregnant women who developed pityriasis rosea during gestation are summarized. METHOD: A 28-year-old woman developed pityriasis rosea during her eighth week of pregnancy...
July 2016: Dermatology Practical & Conceptual
Mark S Lloyd, Edward P Buchanan, David Y Khechoyan
Outcome measures in craniosynostosis surgery have progressed from those based on the need for surgical revision to linear anthropometric measurements, 2D CT vector analysis and 3D CT vector analysis. However, finding an objective means to assess postoperative cranial morphological improvement remains challenging. A critical review of previous studies used to measure craniosynostosis surgery outcomes is presented. We also introduce and briefly discuss the key features of the computational algorithm that is being utilized in our center for evaluating craniosynostosis surgical outcomes...
September 7, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
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"