当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

Abstract：

:Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked up by neonatal screening alone. Here we describe a case of congenital hypothyroidism due to an ectopic thyroid that was not diagnosed for 13 years and resulted in severe skeletal changes beside mental disablement. The patient showed coarse facial features (hypertelorism, broad flat nasal bridge, broad face) and a severe truncal shortening due to kyphoscoliosis of the spine. X-rays detected highly retarded bone age, a widely opened anterior fontanelle, immature, flat bodies of the vertebra with ventral beaked deformities mainly in the lumbar region and no ossification centres in the head of the femurs. In this patient we found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/or hypoplastic thyroid.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Hüffmeier U,Tietze HU,Rauch A

doi

10.1016/j.ejmg.2007.02.002

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

209-15

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(07)00029-8

journal_volume

50

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

    abstract：:We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mappe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.07.003

    authors： Menten B,Buysse K,Vermeulen S,Meersschaut V,Vandesompele J,Ng BL,Carter NP,Mortier GR,Speleman F

    更新日期：2007-11-01 00:00:00

  • Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

    abstract：:Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Who...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2017.03.006

    authors： Aggarwal A,Rodriguez-Buritica DF,Northrup H

    更新日期：2017-06-01 00:00:00

  • Periapical cemental dysplasia is common in women with NF1.

    abstract：BACKGROUND:Neurofibromatosis type 1 (NF1) is a genetic disorder with skeletal involvement. Periapical cemental dysplasia is a rare finding in the normal population. METHOD:A total of 55 patients with NF1, 29 female and 26 male patients, were evaluated with orthopantomograms, supplemented with periapical radiographs if...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.04.001

    authors： Visnapuu V,Peltonen S,Ellilä T,Kerosuo E,Väänänen K,Happonen RP,Peltonen J

    更新日期：2007-07-01 00:00:00

  • A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

    abstract：:"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.007

    authors： Rafati M,Mohamadhashem F,Hoseini A,Hoseininasab F,Ghaffari SR

    更新日期：2016-06-01 00:00:00

  • Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

    abstract：:We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intra...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2006.03.004

    authors： Chaabouni M,Martinovic J,Sanlaville D,Attié-Bittach T,Caillat S,Turleau C,Vekemans M,Morichon N

    更新日期：2006-11-01 00:00:00

  • A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.

    abstract：:Moebius syndrome (MBS) is a rare congenital disorder characterized by rhombencephalic mal development, mainly presenting with facial palsy with limited gaze abduction. Most cases are sporadic, possibly caused by a combination of environmental and genetic factors; however, no proven specific associations have been yet ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.05.003

    authors： Uyguner ZO,Toksoy G,Altunoglu U,Ozgur H,Basaran S,Kayserili H

    更新日期：2015-06-01 00:00:00

  • Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.

    abstract：:Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign co...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.08.010

    authors： Linhares ND,Freire MC,Cardenas RG,Pena HB,Bahia M,Pena SD

    更新日期：2014-11-01 00:00:00

  • A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

    abstract：:We report a child with a 785kb deletion of the 3p14.1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis. FOXP1 and FOXP2 are transcription factors containing a polyglutamine tract and a forkhead DNA binding domain. They both play a role i...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.03.012

    authors： Pariani MJ,Spencer A,Graham JM Jr,Rimoin DL

    更新日期：2009-03-01 00:00:00

  • Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.

    abstract：:Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals fro...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.007

    authors： Gong L,Wang B,Wang J,Yu H,Ma X,Yang J

    更新日期：2011-03-01 00:00:00

  • Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.

    abstract：:Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines having structural aberrations of the X and Y chromosomes are variable and hard to accurately predict. Phenotypes associated with sex chromosome mosaicism range from Turner syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.11.002

    authors： Reshmi SC,Miller JL,Deplewski D,Close C,Henderson LJ,Littlejohn E,Schwartz S,Waggoner DJ

    更新日期：2011-03-01 00:00:00

  • Narrowing the deleted region associated with the 15q21 syndrome.

    abstract：:Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon and poorly characterized. Few cases defined at the cytogenetic level have been reported with 15q21 deletions and characteristic facial dysmorphisms are present in all them. We report on the molecular characterization by array-CGH o...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.04.012

    authors： Pramparo T,Mattina T,Gimelli S,Liehr T,Zuffardi O

    更新日期：2005-07-01 00:00:00

  • Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever.

    abstract：:Familial Mediterranean fever (FMF) is a recessive autoinflammatory disorder. The balance between the pro-inflammatory cytokine IL-1β and its receptor antagonist IL-1RA plays an important role in the development of FMF. In order to determine a possible association of polymorphisms in IL-1β and IL-1RA genes with occurre...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.11.007

    authors： Ibrahim JN,Chouery E,Lecron JC,Mégarbané A,Medlej-Hashim M

    更新日期：2015-12-01 00:00:00

  • MAPH: from gels to microarrays.

    abstract：:The development of accurate and sensitive methodologies to detect small chromosomal imbalances (<3 Mb) is extremely important in clinical diagnostics and research in human genetics. The technique of array-comparative genomic hybridization (CGH) using BAC and PAC clones is very sensitive methodology and is rapidly beco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2005.04.011

    authors： Patsalis PC,Kousoulidou L,Sismani C,Männik K,Kurg A

    更新日期：2005-07-01 00:00:00

  • A patient with two mitochondrial DNA mutations causing PEO and LHON.

    abstract：:We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heter...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.10.004

    authors： Melberg A,Moslemi AR,Palm O,Raininko R,Stålberg E,Oldfors A

    更新日期：2009-01-01 00:00:00

  • Finger creases lend a hand in Kabuki syndrome.

    abstract：:Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early establishment of a diagnostic of KS leads to better care of the patients and therefore prevents complications such as percep...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.07.005

    authors： Michot C,Corsini C,Sanlaville D,Baumann C,Toutain A,Philip N,Busa T,Holder M,Faivre L,Odent S,Delrue MA,Till M,Jacquemont ML,Cordier MP,Goldenberg A,Sanchez E,Alix E,Poisson S,Kayirangwa H,Lacombe D,Gilbert-Dussar

    更新日期：2013-10-01 00:00:00

  • First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

    abstract：:Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog-Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.12.001

    authors： Bedoyan JK,Friez MJ,DuPont B,Ahmad A

    更新日期：2009-07-01 00:00:00

  • Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

    abstract：:We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndr...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2006.10.004

    authors： Priolo M,Ciccone R,Bova I,Campolo G,Laganà C,Zuffardi O

    更新日期：2007-03-01 00:00:00

  • CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

    abstract：:Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers com...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.02.008

    authors： Repnikova EA,Lyalin DA,McDonald K,Astbury C,Hansen-Kiss E,Cooley LD,Pfau R,Herman GE,Pyatt RE,Hickey SE

    更新日期：2020-01-01 00:00:00

  • Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

    abstract：:Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillbor...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.07.005

    authors： Coulibaly B,Sigaudy S,Girard N,Popovici C,Missirian C,Heckenroth H,Tasei AM,Fernandez C

    更新日期：2010-09-01 00:00:00

  • Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

    abstract：:Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an autosomal recessive form of inheritance with thin corpus callosum (ARHSP-TCC), and displays genetic heterogeneity with four known loci. We ident...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.006

    authors： Abdel Aleem A,Abu-Shahba N,Swistun D,Silhavy J,Bielas SL,Sattar S,Gleeson JG,Zaki MS

    更新日期：2011-01-01 00:00:00

  • A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

    abstract：OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104001

    authors： Luo Y,Hu H,Jiang L,Ma Y,Zhang R,Xu J,Pan Y,Long Y,Yao H,Liang Z

    更新日期：2020-09-01 00:00:00

  • Gastrointestinal problems in 15q duplication syndrome.

    abstract：:Chromosome 15q duplication syndrome (Dup15q syndrome) is a neurodevelopmental disorder involving copy number gains of the maternal chromosome 15q11.2-q13 region, characterized by intellectual disability, developmental delay, autism spectrum disorder (ASD), and epilepsy. Gastrointestinal (GI) problems in Dup15q syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.012

    authors： Shaaya EA,Pollack SF,Boronat S,Davis-Cooper S,Zella GC,Thibert RL

    更新日期：2015-03-01 00:00:00

  • No mutations detected in the INSR gene in a chromosome 19p13 linked migraine pedigree.

    abstract：:The aim of this study was to investigate through direct sequencing the insulin receptor (INSR) gene in DNA samples from a migraine affected family previously showing linkage to chromosome 19p13 in an attempt to detect disease associated mutations. Migraine is a common debilitating disorder with a significant genetic c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.015

    authors： Curtain R,Tajouri L,Lea R,MacMillan J,Griffiths L

    更新日期：2006-01-01 00:00:00

  • Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

    abstract：:Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.02.004

    authors： Hannes F,Drozniewska M,Vermeesch JR,Haus O

    更新日期：2010-05-01 00:00:00

  • A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

    abstract：:Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2019.103756

    authors： Mishra S,Rai A,Srivastava P,Phadke SR

    更新日期：2020-03-01 00:00:00

  • Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

    abstract：:Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal ha...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104097

    authors： Dontaine P,Kottos E,Dassonville M,Balasel O,Catros V,Soblet J,Perlot P,Vilain C

    更新日期：2021-01-01 00:00:00

  • Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

    abstract：:We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unsp...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.12.001

    authors： Ballarati L,Cereda A,Caselli R,Maitz S,Russo S,Selicorni A,Larizza L,Giardino D

    更新日期：2012-02-01 00:00:00

  • SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

    abstract：:Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.005

    authors： Mauri L,Franzoni A,Scarcello M,Sala S,Garavelli L,Modugno A,Grammatico P,Patrosso MC,Piozzi E,Del Longo A,Gesu GP,Manfredini E,Primignani P,Damante G,Penco S

    更新日期：2015-02-01 00:00:00

  • A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

    abstract：:The increasing use of whole-genome array screening has revealed the important role of DNA copy-number variations in the pathogenesis of neurodevelopmental disorders and several recurrent genomic disorders have been defined during recent years. However, some variants considered to be pathogenic have also been observed ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.11.005

    authors： Männik K,Parkel S,Palta P,Zilina O,Puusepp H,Esko T,Mägi R,Nõukas M,Veidenberg A,Nelis M,Metspalu A,Remm M,Ounap K,Kurg A

    更新日期：2011-03-01 00:00:00

  • A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

    abstract：:An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spast...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103848

    authors： Vetri L,Calì F,Vinci M,Amato C,Roccella M,Granata T,Freri E,Solazzi R,Romano V,Elia M

    更新日期：2020-04-01 00:00:00