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[PMID]: 24753445
[Au] Autor:Vanhapiha N; Knuutila S; Vettenranta K; Lohi O
[Ad] Address:Tampere Center for Child Health Research, University of Tampere Medical School and Tampere University Hospital, Tampere, Finland.
[Ti] Title:Burkitt lymphoma and Ewing sarcoma in a child with Williams syndrome.
[So] Source:Pediatr Blood Cancer;61(10):1877-9, 2014 Oct.
[Is] ISSN:1545-5017
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Williams syndrome (WS) is a relatively rare multisystem neurodevelopmental disorder caused by a hemizygous deletion of contiguous genes on chromosome 7q11.23. Although WS does not predispose carriers to cancers, alterations of chromosome 7 are common in several human neoplasms. We report here a patient with WS and two different cancers, Burkitt lymphoma and Ewing sarcoma. Array-CGH analysis of the patient blood revealed a constitutive 1.4 million base pair deletion at 7q11.23, compatible with WS diagnosis.
[Mh] MeSH terms primary: Burkitt Lymphoma/genetics
Sarcoma, Ewing/genetics
Williams Syndrome/complications
Williams Syndrome/genetics
[Mh] MeSH terms secundary: Adolescent
Age of Onset
Child
Child, Preschool
Comparative Genomic Hybridization
Humans
In Situ Hybridization, Fluorescence
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1411
[Js] Journal subset:IM
[Da] Date of entry for processing:140820
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.25055

  2 / 5400 MEDLINE  
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[PMID]: 23325749
[Au] Autor:Castro S; Peraza E; Zapata M
[Ad] Address:Department of Obstetrics and Gynecology, Hospital Dr. Norberto Treviño Zapata, Victoria, Tamaulipas, Mexico.
[Ti] Title:Prenatal diagnosis of femoral-facial syndrome: case report.
[So] Source:J Clin Ultrasound;42(1):49-52, 2014 Jan.
[Is] ISSN:1097-0096
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed.
[Mh] MeSH terms primary: Femur/abnormalities
Pierre Robin Syndrome/ultrasonography
Ultrasonography, Prenatal
[Mh] MeSH terms secundary: Adult
Female
Femur/ultrasonography
Humans
Infant, Newborn
Pregnancy
Pregnancy Trimester, First
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1411
[Js] Journal subset:IM
[Da] Date of entry for processing:140304
[St] Status:MEDLINE
[do] DOI:10.1002/jcu.22034

  3 / 5400 MEDLINE  
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[PMID]: 23796902
[Au] Autor:Oishi K; Faria AV; Yoshida S; Chang L; Mori S
[Ad] Address:The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: koishi@mri.jhu.edu.
[Ti] Title:Quantitative evaluation of brain development using anatomical MRI and diffusion tensor imaging.
[So] Source:Int J Dev Neurosci;31(7):512-24, 2013 Nov.
[Is] ISSN:1873-474X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The development of the brain is structure-specific, and the growth rate of each structure differs depending on the age of the subject. Magnetic resonance imaging (MRI) is often used to evaluate brain development because of the high spatial resolution and contrast that enable the observation of structure-specific developmental status. Currently, most clinical MRIs are evaluated qualitatively to assist in the clinical decision-making and diagnosis. The clinical MRI report usually does not provide quantitative values that can be used to monitor developmental status. Recently, the importance of image quantification to detect and evaluate mild-to-moderate anatomical abnormalities has been emphasized because these alterations are possibly related to several psychiatric disorders and learning disabilities. In the research arena, structural MRI and diffusion tensor imaging (DTI) have been widely applied to quantify brain development of the pediatric population. To interpret the values from these MR modalities, a "growth percentile chart," which describes the mean and standard deviation of the normal developmental curve for each anatomical structure, is required. Although efforts have been made to create such a growth percentile chart based on MRI and DTI, one of the greatest challenges is to standardize the anatomical boundaries of the measured anatomical structures. To avoid inter- and intra-reader variability about the anatomical boundary definition, and hence, to increase the precision of quantitative measurements, an automated structure parcellation method, customized for the neonatal and pediatric population, has been developed. This method enables quantification of multiple MR modalities using a common analytic framework. In this paper, the attempt to create an MRI- and a DTI-based growth percentile chart, followed by an application to investigate developmental abnormalities related to cerebral palsy, Williams syndrome, and Rett syndrome, have been introduced. Future directions include multimodal image analysis and personalization for clinical application.
[Mh] MeSH terms primary: Brain Mapping
Brain/anatomy & histology
Brain/growth & development
Diffusion Tensor Imaging
Magnetic Resonance Imaging
[Mh] MeSH terms secundary: Age Factors
Anisotropy
Cerebral Palsy/diagnosis
Humans
Rett Syndrome/diagnosis
Williams Syndrome/diagnosis
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; REVIEW
[Em] Entry month:1406
[Cu] Class update date: 141104
[Lr] Last revision date:141104
[Js] Journal subset:IM
[Da] Date of entry for processing:131115
[St] Status:MEDLINE

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[PMID]: 24123922
[Au] Autor:Graham JM; Schwartz CE
[Ad] Address:Department of Pediatrics, Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.
[Ti] Title:MED12 related disorders.
[So] Source:Am J Med Genet A;161A(11):2734-40, 2013 Nov.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:MED12: is a member of the large Mediator complex, which has a critical and central role in RNA polymerase II transcription. As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a protein network required for extraneuronal gene silencing and also functions as a direct suppressor of Gli3-dependent Sonic hedgehog signaling. This may explain its role in several different X-linked intellectual disability syndromes that share some overlapping clinical features. This review will compare and contrast four different clinical conditions that have been associated with different mutations in MED12, which is located at Xq13. To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit-Brunner type, or OSMKB), and one large family with profound X-linked intellectual disability due to a novel c.5898insC frameshift mutation that unlike the other three syndromes, resulted in affected female carriers and truncation of the MED12 protein. It is likely that more MED12 mutations will be detected in sporadic patients and X-linked families with intellectual disability and dysmorphic features as exome sequencing becomes more commonly utilized, and this overview of MED12-related disorders may help to correlate MED12 genotypes with clinical findings.
[Mh] MeSH terms primary: Genetic Diseases, Inborn/genetics
Mediator Complex/genetics
[Mh] MeSH terms secundary: Agenesis of Corpus Callosum/diagnosis
Agenesis of Corpus Callosum/genetics
Anus, Imperforate/diagnosis
Anus, Imperforate/genetics
Child
Child, Preschool
Constipation/diagnosis
Constipation/genetics
Craniofacial Abnormalities/diagnosis
Craniofacial Abnormalities/genetics
Facies
Female
Genes, X-Linked
Genetic Diseases, Inborn/diagnosis
Humans
Male
Marfan Syndrome/diagnosis
Marfan Syndrome/genetics
Mental Retardation, X-Linked/diagnosis
Mental Retardation, X-Linked/genetics
Muscle Hypotonia/congenital
Muscle Hypotonia/diagnosis
Muscle Hypotonia/genetics
Mutation
Phenotype
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Name of substance:0 (MED12 protein, human); 0 (Mediator Complex)
[Em] Entry month:1407
[Cu] Class update date: 141104
[Lr] Last revision date:141104
[Js] Journal subset:IM
[Da] Date of entry for processing:131029
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36183

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[PMID]: 23674381
[Au] Autor:Grover M; Campeau PM; Lietman CD; Lu JT; Gibbs RA; Schlesinger AE; Lee BH
[Ad] Address:Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[Ti] Title:Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.
[So] Source:J Bone Miner Res;28(11):2333-7, 2013 Nov.
[Is] ISSN:1523-4681
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form caused by the recurrent (c.-14C > T) mutation in the 5'UTR of the IFITM5 gene. The mutation adds five residues to the N-terminus of the IFITM5, but the pathophysiology of the disease remains to be elucidated. Typical clinical features present in the majority of OI type V patients include interosseous membrane calcification between the radius and ulna and between the tibia and fibula, radial head dislocation, and significant hyperplastic callus formation at the site of fractures. We report a 5-year-old child with clinical features of OI type III or severe OI type IV (characteristic facies, gray sclerae, typical fractures) and absence of classical features of OI type V with a de novo recurrent IFITM5 mutation (c.-14C > T), now typical of OI type V. This highlights the variability of OI caused by IFITM5 mutations and suggests screening for mutations in this gene in most cases of OI where type 1 collagen mutations are absent.
[Mh] MeSH terms primary: Membrane Proteins/genetics
Mutation/genetics
Osteogenesis Imperfecta/genetics
[Mh] MeSH terms secundary: Base Sequence
Child
Female
Forearm/radiography
Humans
Male
Molecular Sequence Data
Osteogenesis Imperfecta/radiography
Pedigree
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (IFITM5 protein, human); 0 (Membrane Proteins)
[Em] Entry month:1408
[Cu] Class update date: 141104
[Lr] Last revision date:141104
[Js] Journal subset:IM
[Da] Date of entry for processing:131021
[St] Status:MEDLINE
[do] DOI:10.1002/jbmr.1983

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[PMID]: 23494560
[Au] Autor:Cashon CH; Ha OR; DeNicola CA; Mervis CB
[Ad] Address:Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, 40292, USA, cara.cashon@louisville.edu.
[Ti] Title:Toddlers with Williams syndrome process upright but not inverted faces holistically.
[So] Source:J Autism Dev Disord;43(11):2549-57, 2013 Nov.
[Is] ISSN:1573-3432
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Holistic processing of upright, but not inverted, faces is a marker of perceptual expertise for faces. This pattern is shown by typically developing individuals beginning at age 7 months. Williams syndrome (WS) is a rare neurogenetic developmental disorder characterized by extreme interest in faces from a very young age. Research on the effects of inversion on holistic processing of faces by older children and adults with WS has produced mixed results. Younger children with WS were not included in these previous studies. Using the habituation switch paradigm, we demonstrated that 15-35-month-olds with WS process upright, but not inverted, faces holistically. This study provides evidence of perceptual expertise for faces in individuals with WS early in life.
[Mh] MeSH terms primary: Face
Orientation/physiology
Pattern Recognition, Visual/physiology
Williams Syndrome/physiopathology
[Mh] MeSH terms secundary: Child, Preschool
Female
Humans
Infant
Male
Photic Stimulation
Williams Syndrome/psychology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Entry month:1410
[Cu] Class update date: 141104
[Lr] Last revision date:141104
[Js] Journal subset:IM
[Da] Date of entry for processing:131014
[St] Status:MEDLINE
[do] DOI:10.1007/s10803-013-1804-0

  7 / 5400 MEDLINE  
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[PMID]: 24945424
[Au] Autor:Pereda A; Azriel S; Bonet M; Garin I; Gener B; Lecumberri B; de Nanclares GP
[Ti] Title:Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
[So] Source:J Pediatr Endocrinol Metab;27(11-12):1089-94, 2014 Nov 1.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:UNLABELLED: Abstract Objectives: Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes. METHODS AND RESULTS: We report on two cases, which were referred to the Endocrinology and Pediatric Endocrinology Services for obesity. Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) resistance] and PPHP (phenotype resembling AHO, without PTH resistance), but (epi)genetic analysis of the GNAS locus ruled out the suspected diagnosis. Further clinical re-evaluation prompted us to suspect TRPS, and this was confirmed genetically. CONCLUSION: TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases. Specific traits such as sparse scalp hair and a pear-shaped nose, present in both cases, can be considered pathognomonic signs of TRPS, which could help us to reach a correct diagnosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1411
[Js] Journal subset:IM
[St] Status:In-Data-Review

  8 / 5400 MEDLINE  
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[PMID]: 25360184
[Au] Autor:Arora R
[Ad] Address:Department of Radiology, Nizams Institute of Medical Sciences, Hyderabad, India.
[Ti] Title:Joubert syndrome: imaging features and illustration of a case.
[So] Source:Pol J Radiol;79:381-3, 2014.
[Is] ISSN:1733-134X
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:BACKGROUND: Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. CASE REPORT: We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography. CONCLUSIONS: Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1410
[Cu] Class update date: 141103
[Lr] Last revision date:141103
[Da] Date of entry for processing:141031
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.12659/PJR.890941

  9 / 5400 MEDLINE  
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[PMID]: 25364685
[Au] Autor:Phanse-Gupte SR; Khadilkar VV; Khadilkar AV
[Ad] Address:Research Scientist, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.
[Ti] Title:Clinical features and endocrine profile of Laron syndrome in Indian children.
[So] Source:Indian J Endocrinol Metab;18(6):863-7, 2014 Nov.
[Is] ISSN:2230-8210
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. MATERIAL AND METHODS: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. RESULTS AND DISCUSSION: Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (<5 percentile) and IGFP-3 (<0.1 percentile) with high basal and stimulated GH [Basal GH mean (SD) = 13.78 (12.75) ng/ml, 1-h stimulated GH mean (SD) = 46.29 (25.68) ng/ml]. All children showed poor response to IGF generation test. CONCLUSION: Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1411
[Da] Date of entry for processing:141103
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/2230-8210.140236

  10 / 5400 MEDLINE  
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[PMID]: 24915162
[Au] Autor:Zeng WH; Xu JJ; Jia MY; Ren YZ
[Ad] Address:Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou, Zhejiang , China.
[Ti] Title:Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.
[So] Source:Gynecol Endocrinol;30(10):694-6, 2014 Oct.
[Is] ISSN:1473-0766
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. CASE: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. CONCLUSIONS: This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.3109/09513590.2014.929654


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