keyword
MENU ▼
Read by QxMD icon Read
search

Cranial dysplasias

keyword
https://www.readbyqxmd.com/read/28230213/knock-in-human-fgfr3-achondroplasia-mutation-as-a-mouse-model-for-human-skeletal-dysplasia
#1
Yi-Ching Lee, I-Wen Song, Ya-Ju Pai, Sheng-De Chen, Yuan-Tsong Chen
Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3(G380R) (FGFR3(ACH)) cDNA, the most common mutation in human ACH...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28217872/craniosynostosis-delayed-closure-of-the-fontanelle-anal-genitourinary-and-skin-abnormalities-cdags-syndrome-first-report-in-a-mexican-patient-and-review-of-the-literature
#2
Rodrigo Pastrana-Ayala, Gretty L Peña-Castro, Adriana M Valencia-Herrera, Carlos A Mena-Cedillos, Sonia Toussaint-Caire, Yumiko I Akaki-Carreño, Constanza García-Delgado, Veronica F Morán-Barroso, Mirna Toledo-Bahena
INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second...
February 19, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28214971/complete-occipitalization-of-the-atlas-with-bilateral-external-auditory-canal-atresia
#3
Janez Dolenšek, Erika Cvetko, Žiga Snoj, Marija Meznaric
Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation...
February 18, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28197624/-nerve-distribution-and-density-in-the-canine-hip-joint-capsule-comparison-of-healthy-and-dysplastic-hip-joints
#4
Felix Giebels, Andreas Prescher, Stefan Wagenpfeil, Arno Bücker, Sylvia Kinzel
OBJECTIVE: The hip-joint capsule is exposed to increased tension forces during canine hip dysplasia, resulting in inflammation of the capsular tissue. It has been postulated that inflammation is associated with an increased nerve-distribution density. Therefore, it could be supposed that the nerve-distribution density in the hip-joint capsule is higher in dogs with dysplastic hip compared to healthy dogs. MATERIAL AND METHODS: In 16 Labrador Retriever dogs that had been euthanised due to unrelated reasons, the hip joints were classified as normoplastic (group 1, n = 18) or dysplastic (group 2, n = 14) based on radiography...
February 15, 2017: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://www.readbyqxmd.com/read/28193110/pontine-tegmental-cap-dysplasia-in-an-extremely-preterm-infant-and-review-of-the-literature
#5
Sylvie Picker-Minh, Sebastian Hartenstein, Hans Proquitté, Sebastian Fröhler, Vera Raile, Nadine Kraemer, Sarah Apeshiotis, Michael Leipoldt, Karim D Kalache, Deborah Morris-Rosendahl, Eugen Boltshauser, Wei Chen, Angela M Kaindl
Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28173652/-clinical-and-genetic-analysis-of-a-family-with-joubert-syndrome-type-10-caused-by-ofd1-gene-mutation
#6
C Meng, K H Zhang, J Ma, X Gao, K Yu, H Y Zhang, Y Wang, Z X Zhang, W G Li, Y Liu, Z T Gai
Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method: The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result: Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity, short limbs, coloboma of optic disc and choroid, situs inversus.Cranial MRI showed "molar tooth sign" ...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28111139/double-outlet-right-ventricle-with-an-intact-interventricular-septum-and-concurrent-hypoplastic-left-ventricle-in-a-calf
#7
D K Newhard, S W Jung, R L Winter, T Kuca, J Bayne, T Passler
A 3-day-old Hereford heifer calf presented for evaluation of lethargy and dyspnea, with persistent hypoxia despite supplemental oxygen therapy. A grade III/VI right apical systolic murmur was noted during cardiac auscultation. Echocardiography revealed a double-outlet right ventricle with an intact interventricular septum and concurrent hypoplastic left ventricle and tricuspid valve dysplasia. Post-mortem examination revealed additional congenital anomalies of ductus arteriosus, patent foramen ovale, and persistent left cranial vena cava...
January 19, 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/28052439/an-hdac-inhibitor-entinostat-ms-275-partially-prevents-delayed-cranial-suture-closure-in-heterozygous-runx2-null-mice
#8
H S Bae, W J Yoon, Y D Cho, R Islam, H R Shin, B S Kim, J M Lim, M S Seo, S A Cho, K Y Choi, S H Baek, H G Kim, K M Woo, J H Baek, Y S Lee, H M Ryoo
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder caused by mutations in RUNX2, coding a key transcription factor of early osteogenesis. CCD patients suffer from the developmental defects in cranial bones. Despite numerous investigations and clinical approaches, no therapeutic strategy has been suggested to prevent CCD. Here, we show that fetal administration of Entinostat/MS-275, a class I histone deacetylase (HDAC)-specific inhibitor, partially prevents delayed closure of cranial sutures in Runx2(+/-) mice strain of C57BL/6J by two mechanisms: (1) post-translational acetylation of Runx2 protein, which stabilized the protein and activated its transcriptional activity; and (2) epigenetic regulation of Runx2 and other bone marker genes...
January 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28027977/cleidocranial-dysplasia-clinical-endocrinologic-and-molecular-findings-in-15-patients-from-11-families
#9
Firdevs Dinçsoy Bir, Nuriye Dinçkan, Yeliz Güven, Firdevs Baş, Umut Altunoğlu, Senem S Kuvvetli, Şükran Poyrazoğlu, Güven Toksoy, Hülya Kayserili, Z Oya Uyguner
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27992967/role-of-fetal-mri-in-the-evaluation-of-isolated-and-non-isolated-corpus-callosum-dysgenesis-results-of-a-cross-sectional-study
#10
Lucia Manganaro, Silvia Bernardo, Corrado De Vito, Amanda Antonelli, Enrica Marchionni, Valeria Vinci, Matteo Saldari, Letizia Di Meglio, Antonella Giancotti, Evelina Silvestri, Carlo Catalano, Antonio Pizzuti
PURPOSE: To characterize isolated and non-isolated forms of Corpus Callosum Dysgenesis (CCD) at Fetal MRI and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus Callosum (CC), cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated. Results of genetic tests were also recorded...
December 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#11
REVIEW
Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan
The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#12
Mehmet Gunduz, Ozlem Unal
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27837399/reconstruction-of-the-shallow-acetabulum-with-a-combination-of-autologous-bulk-and-impaction-bone-grafting-fixed-by-cement
#13
Masaaki Maruyama, Shinji Wakabayashi, Hiroshi Ota, Keiji Tensho
BACKGROUND: Acetabular bone deficiency, especially proximal and lateral deficiency, is a difficult technical problem during primary total hip arthroplasty (THA) in developmental dysplasia of the hip (DDH). We report a new reconstruction method using a medial-reduced cemented socket and additional bulk bone in conjunction with impaction morselized bone grafting (additional bulk bone grafting method). QUESTIONS/PURPOSES: In a population of patients with acetabular dysplasia undergoing THA using a medial-reduced cemented socket and additional bulk bone with impacted morselized bone grafting, we evaluated (1) the radiographic appearance of bone graft; (2) the proportion of cups that developed loosening and subsequent revision; and (3) clinical results (outcome scores and complications)...
February 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27784474/-clinical-features-and-gene-mutations-in-epilepsy-of-infancy-with-migrating-focal-seizures
#14
K W Shang, Y H Zhang, X L Yang, A J Liu, Z X Yang, X Y Liu, Y W Jiang, X R Wu
Objective: To summarize the clinical features and gene mutations of epilepsy of infancy with migrating focal seizures (EIMFS). Method: Clinical features and electroencephalograms(EEG)of 9 patients with EIMFS of Peking University First Hospital from May 2015 to January 2016 were analyzed. Candidate gene mutations were screened by next generation sequencing. Result: Among the 9 patients, 3 were males and 6 were females. Two patients had family history. Seizure onset age was 2 days to 3 months after birth (median age 35 days)...
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27767902/maternal-administration-of-meclozine-for-the-treatment-of-foramen-magnum-stenosis-in-transgenic-mice-with-achondroplasia
#15
Masaki Matsushita, Kenichi Mishima, Ryusaku Esaki, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum stenosis (FMS) is one of the serious neurological complications in ACH. Through comprehensive drug screening, the authors identified that meclozine, an over-the-counter drug for motion sickness, inhibited activation of FGFR3 signaling. Oral administration of meclozine to the growing ACH mice promoted longitudinal bone growth, but it did not prevent FMS...
January 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27753269/spondyloepiphyseal-dysplasia-omani-type-chst3-mutation-spectrum-and-phenotypes-in-three-indian-families
#16
Priyanka Srivastava, Himani Pandey, Divya Agarwal, Kausik Mandal, Shubha R Phadke
We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. CHST3 gene encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1) which mediates the sulfation of proteoglycans, (chondroitin sulfate), in the extracellular matrix of cartilage. CHST3 gene was sequenced in probands from three different families with SED. In two families missense mutations (c.904G>C predicting the substitution D302H) and c...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27738723/-anatomy-and-malformations-of-the-posterior-cranial-fossa
#17
T Struffert
Many important structures are located in the confined space within the posterior cranial fossa. This article describes the main aspects of the anatomy. As a uniform classification of malformations of the posterior cranial fossa does not exist the main syndromes, such as Chiari malformations, zerebellar hypoplasia and dysplasia are discussed separately.
November 2016: Der Radiologe
https://www.readbyqxmd.com/read/27594963/craniometaphyseal-dysplasia-in-a-14-month-old-a-case-report-and-review-of-imaging-differential-diagnosis
#18
Sumit Singh, Curtis Qin, Srikanth Medarametla, Shilpa V Hegde
We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias...
September 2016: Radiology case reports
https://www.readbyqxmd.com/read/27588933/dolichocephaly-in-preterm-infants-prevalence-risk-factors-and-early-motor-outcomes
#19
Dana B McCarty, Jennifer R Peat, William F Malcolm, P Brian Smith, Kimberley Fisher, Ricki F Goldstein
Objective The purpose of this study was to determine when dolichocephaly develops in preterm infants, to establish factors that contribute to its development, and to determine its association with adverse motor outcomes. Study Design This study was a retrospective review of data collected from preterm infants born at < 32 weeks' gestation. The cranial index was measured by a physical therapist (PT) at three time points during hospitalization. Demographic data, neonatal morbidities, and motor outcomes at outpatient follow-up were collected...
September 2, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27574995/brain-dysplasia-associated-with-ciliary-dysfunction-in-infants-with-congenital-heart-disease
#20
Ashok Panigrahy, Vincent Lee, Rafael Ceschin, Giulio Zuccoli, Nancy Beluk, Omar Khalifa, Jodie K Votava-Smith, Mark DeBrunner, Ricardo Munoz, Yuliya Domnina, Victor Morell, Peter Wearden, Joan Sanchez De Toledo, William Devine, Maliha Zahid, Cecilia W Lo
OBJECTIVE: To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) STUDY DESIGN: We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound scan and brain magnetic resonance imaging were obtained pre- and/or postoperatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes...
November 2016: Journal of Pediatrics
keyword
keyword
41919
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"