keyword
MENU ▼
Read by QxMD icon Read
search

Macrocephaly

keyword
https://www.readbyqxmd.com/read/29142766/mutations-in-nsd1-and-nfix-in-three-patients-with-clinical-features-of-sotos-syndrome-and-malan-syndrome
#1
Yongping Lu, Pin Fee Chong, Ryutaro Kira, Toshiyuki Seto, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
Mutations in nuclear receptor SET domain-containing protein 1 gene ( NSD1 ) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, mutations in the nuclear factor I/X gene ( NFIX ) can lead to Malan syndrome, also known as Sotos-like syndrome, or to the Marshall-Smith syndrome. In this study, using next generation sequencing (NGS), we identified de novo mutations in NSD1 and NFIX in three patients with developmental disabilities associated with overgrowth or macrocephaly...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29131457/neurodevelopmental-outcome-of-hiv-exposed-but-uninfected-infants-in-the-mother-and-infants-health-study-cape-town-south-africa
#2
Priscilla E Springer, Amy L Slogrove, Barbara Laughton, Julie A Bettinger, Henriëtte H Saunders, Christopher D Molteno, Mariana Kruger
OBJECTIVES: To compare neurodevelopmental outcomes of HIV-exposed uninfected (HEU) and HIV-unexposed uninfected (HUU) infants in a peri-urban South African population. HEU infants living in Africa face unique biological and environmental risks but uncertainty remains regarding their neurodevelopmen-tal outcome. This is partly due to lack of well-matched HUU comparison groups needed to adjust for confounding factors. METHODS: This was a prospective cohort study of infants enrolled at birth from a low- risk midwife obstetric facility...
November 13, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/29095329/novel-gfap-variant-in-adult-onset-alexander-disease-with-progressive-ataxia-and-palatal-tremor
#3
Jennifer M Gass, Anvir Cheema, Jessica Jackson, Patrick R Blackburn, Jay Van Gerpen, Paldeep S Atwal
INTRODUCTION: Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar/pseudobulbar signs. While the majority of these patients have the more progressive infantile form which causes severe leukodystrophy and early death; the less common adult form is more variable (ie, onset age, symptoms), with bulbar dysfunction as the primary feature...
November 2017: Neurologist
https://www.readbyqxmd.com/read/29080836/identification-of-a-novel-mutation-in-the-fgfr3-gene-in-a-chinese-family-with-hypochondroplasia
#4
Jing Chen, Jiangfei Yang, Suzhou Zhao, Hui Ying, Guimei Li, Chao Xu
BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative macrocephaly, and lumbar lordosis. Because of its clinical and genetic heterogeneity, gene mutational analysis is particularly important in diagnosis and the phenotypes may be ameliorated if diagnosed early. MATERIALS AND METHODS: In this study, we examined a Chinese family with HCH, performed an inductive analysis of their clinical features and radiographic results, and applied targeted exome sequencing (TES) technology to perform a molecular diagnosis...
October 25, 2017: Gene
https://www.readbyqxmd.com/read/29079544/megalencephalic-leukoencephalopathy-with-subcortical-cysts-a-personal-biochemical-retrospective
#5
REVIEW
Raúl Estévez, Xabier Elorza-Vidal, Héctor Gaitán-Peñas, Carla Pérez-Rius, Mercedes Armand-Ugón, Marta Alonso-Gardón, Efren Xicoy-Espaulella, Sònia Sirisi, Tanit Arnedo, Xavier Capdevila-Nortes, Tania López-Hernández, Marisol Montolio, Anna Duarri, Oscar Teijido, Alejandro Barrallo-Gimeno, Manuel Palacín, Virginia Nunes
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid and ion homeostasis. Patients affected by MLC present macrocephaly, cysts and white matter vacuolation, which lead to motor and cognitive impairments. To date, there is no treatment for MLC, only supportive care. MLC is caused by mutations in the MLC1 and GLIALCAM genes. MLC1 is a membrane protein with low identity to the Kv1.1 potassium channel and GlialCAM belongs to an adhesion molecule family...
October 25, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29079071/occult-spinal-cord-injury-after-blunt-force-trauma-in-a-patient-with-achondroplasia-a-case-report-and-review-of-trauma-management-strategy
#6
Martin Huecker, Zach Harris, Eric Yazel
BACKGROUND: Achondroplastic dwarfism is associated with anatomic abnormalities that can predispose to occult injury and challenges in trauma management. Airway anatomy is problematic due to macrocephaly, midface hypoplasia, and a narrow nasopharynx. Manipulation of the neck is very dangerous due to the high likelihood of preexisting cervicomedullary stenosis. Restrictive lung disease and obstructive sleep apnea may complicate respiratory status. Peripheral and central venous access can be difficult to obtain...
October 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29075327/mosaic-upd-7q-mat-in-a-patient-with-silver-russell-syndrome
#7
Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen
BACKGROUND: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before. CASE PRESENTATION: We reported a second case of mosaic segmental UPD involving 7q...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29034653/successful-delivery-in-a-woman-with-achondroplasia-a-case-report
#8
Mahbooheh Shirazi, Fateme Golshahi, Nastaran Teimoory
Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. Women with achondroplasia suffer from infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause. Our case was a 26-year-old woman with achondroplasia who had scoliosis and osteoporosis. She referred to our clinic at 9 weeks of gestation and had all screenings completely. She had a single female fetus with no abnormalities. She had an emergent due to rupture of membranes at 37 weeks and 3 days under general anesthesia...
August 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/29026271/acanthosis-nigricans-in-a-japanese-boy-with-hypochondroplasia-due-to-a-k650t-mutation-in-fgfr3
#9
Hiroki Hirai, Junpei Hamada, Kosei Hasegawa, Eiichi Ishii
Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been identified as the cause of some types of skeletal dysplasia, which is diagnostically useful. Here, we report the case of a 3-yr-old Japanese boy who presented with AN...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29025781/subclinical-meningoventriculitis-as-a-cause-of-obstructive-hydrocephalus
#10
Ravindran Visagan, Laurent James Livermore, Dominic Kelly, Shailendra Magdum
Communicating hydrocephalus may complicate infantile bacterial meningitis, typically presenting with systemic features of infection. We report a rare case of 'subclinical meningoventriculitis' causing obstructive hydrocephalus and its challenging management. A healthy 10-week-old immunocompetent male patient presented with failure to thrive and vomiting, secondary to presumed gastro-oesophageal reflux. The child was neurologically alert, afebrile with normal inflammatory markers. Progressive macrocephaly prompted an MRI confirming triventricular hydrocephalus secondary to aqueductal stenosis...
October 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28965976/the-presence-of-diminished-white-matter-and-corpus-callosal-thinning-in-a-case-with-a-sox9-mutation
#11
Ayumi Matsumoto, Eri Imagawa, Noriko Miyake, Takahiro Ikeda, Mizuki Kobayashi, Masahide Goto, Naomichi Matsumoto, Takanori Yamagata, Hitoshi Osaka
SOX9 is responsible for campomelic dysplasia (CMPD). Symptoms of CMPD include recurrent apnea, upper respiratory infection, facial features, and shortening of the lower extremities. The variant acampomelic CMPD (ACMPD) lacks long bone curvature. A patient showed macrocephaly (+3.9 standard deviations [SD]) and minor anomalies, such as hypertelorism, palpebronasal fold, small mandible, and a cleft of soft palate without long bone curvature. From three months of age, he required tracheal intubation and artificial respiration under sedation because of tracheomalacia...
September 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28965845/the-immune-signaling-adaptor-lat-contributes-to-the-neuroanatomical-phenotype-of-16p11-2-bp2-bp3-cnvs
#12
Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C Collins, Konstantin Popadin, Camille S Bonnet, Giuliana Giannuzzi, Anne M Maillard, Sébastien Jacquemont, Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond
Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism spectrum disorders and schizophrenia and whose rearrangement causes reciprocal defects in head size and body weight, a second distal 220 kb BP2-BP3 CNV is likewise a potent driver of neuropsychiatric, anatomical, and metabolic pathologies. These two CNVs are engaged in complex reciprocal chromatin looping, intimating a functional relationship between genes in these regions that might be relevant to pathomechanism...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28963436/novel-nr2f1-variants-likely-disrupt-dna-binding-molecular-modeling-in-two-cases-review-of-published-cases-genotype-phenotype-correlation-and-phenotypic-expansion-of-the-bosch-boonstra-schaaf-optic-atrophy-syndrome
#13
Charu Kaiwar, Michael T Zimmerman, Matthew J Ferber, Zhiyv Niu, Raul A Urrutia, Eric W Klee, Dusica Babovic-Vuksanovic
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1 The first is a 14-year-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on CSF testing...
September 28, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28941020/loss-of-function-variants-in-nfia-provide-further-support-that-nfia-is-a-critical-gene-in-1p32-p31-deletion-syndrome-a-four-patient-series
#14
Anya Revah-Politi, Mythily Ganapathi, Louise Bier, Megan T Cho, David B Goldstein, Parisa Hemati, Alejandro Iglesias, Jane Juusola, John Pappas, Slavé Petrovski, Ashley L Wilson, Vimla S Aggarwal, Kwame Anyane-Yeboa
The association between 1p32-p31 contiguous gene deletions and a distinct phenotype that includes anomalies of the corpus callosum, ventriculomegaly, developmental delay, seizures, and dysmorphic features has been long recognized and described. Recently, the observation of overlapping phenotypes in patients with chromosome translocations that disrupt NFIA (Nuclear factor I/A), a gene within this deleted region, and NFIA intragenic deletions has led to the hypothesis that NFIA is a critical gene within this region...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28934389/the-16p11-2-homologs-fam57ba-and-doc2a-generate-certain-brain-and-body-phenotypes
#15
Jasmine M McCammon, Alicia Blaker-Lee, Xiao Chen, Hazel Sive
Deletion of the 16p11.2 CNV affects 25 core genes and is associated with multiple symptoms affecting brain and body, including seizures, hyperactivity, macrocephaly, and obesity. Available data suggest that most symptoms are controlled by haploinsufficiency of two or more 16p11.2 genes. To identify interacting 16p11.2 genes, we used a pairwise partial loss of function antisense screen for embryonic brain morphology, using the accessible zebrafish model. fam57ba, encoding a ceramide synthase, was identified as interacting with the doc2a gene, encoding a calcium-sensitive exocytosis regulator, a genetic interaction not previously described...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28911146/anemia-in-patients-with-resistance-to-thyroid-hormone-%C3%AE-a-role-for-thyroid-hormone-receptor-%C3%AE-in-human-erythropoiesis
#16
COMPARATIVE STUDY
Anja L M van Gucht, Marcel E Meima, Carla Moran, Maura Agostini, Anna Tylki-Szymanska, Malgorzata-Walasek Krajewska, Krystyna Chrzanowska, Alexandra Efthymiadou, Dionisios Chrysis, Korcan Demir, W Edward Visser, Theo J Visser, Krishna Chatterjee, Thamar B van Dijk, Robin P Peeters
Context: Patients with resistance to thyroid hormone (TH) α (RTHα) are characterized by growth retardation, macrocephaly, constipation, and abnormal thyroid function tests. In addition, almost all RTHα patients have mild anemia, the pathogenesis of which is unknown. Animal studies suggest an important role for TH and TH receptor (TR)α in erythropoiesis. Objective: To investigate whether a defect in TRα affects the maturation of red blood cells in RTHα patients...
September 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28899818/familial-9q33q34-microduplication-in-siblings-with-developmental-disorders-and-acrocephaly
#17
Keiko Shimojima, Nobuhiko Okamoto, Himanshu Goel, Yumiko Ondo, Toshiyuki Yamamoto
Because several genes responsible for epileptic encephalopathy are located on the 9q33q34 region, patients with chromosomal deletions of this region often show intractable epilepsy and neurodevelopmental disability. Contrary to these findings, chromosomal duplications of this region have never been reported previously. We identified a first case of 9q33q34 microduplications in siblings associated with developmental disorders and macrocephaly. Their mother was a mosaic carrier of this duplication. Duplicated regions involved STXBP1; the gene related to epileptic encephalopathy...
September 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28893644/high-bone-mass-due-to-novel-lrp5-and-amer1-mutations
#18
Alice Costantini, Päivi Kekäläinen, Riikka E Mäkitie, Outi Mäkitie
WNT signaling is a key regulator of bone metabolism and its increased or decreased activity leads to skeletal disorders. Here we describe two patients with high bone mass (HBM) caused by novel mutations in two different WNT pathway components. The first patient is a 53-year-old male with HBM. He was diagnosed at adult age based on significantly increased bone mineral density (BMD). He has undergone several surgeries due to excessive bone in ear canals, bilateral jaw exostoses and mandibular tori. Radiographs show severe cortical thickening of cranial and long bones...
September 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28893434/biallelic-mutations-in-szt2-cause-a-discernible-clinical-entity-with-epilepsy-developmental-delay-macrocephaly-and-a-dysmorphic-corpus-callosum
#19
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Yoko Kuroki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Takao Togawa, Ayako Hattori, Seiji Kojima, Shinji Saitoh
Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum...
September 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28892148/mtor-mutations-in-smith-kingsmore-syndrome-four-additional-patients-and-a-review
#20
G Gordo, J Tenorio, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, M Palomares, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz Pérez, V Martinez-Glez, P Lapunzina
Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA: 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis...
September 11, 2017: Clinical Genetics
keyword
keyword
9533
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"