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Journal of Medical Genetics May 2010Silver-Russell syndrome (SRS) is a heterogeneous disorder associated with intrauterine and postnatal growth restriction, body asymmetry, a relative macrocephaly, a...
Silver-Russell syndrome (SRS) is a heterogeneous disorder associated with intrauterine and postnatal growth restriction, body asymmetry, a relative macrocephaly, a characteristic triangular face and further dysmorphisms. In about 50% of patients, genetic/epigenetic alterations can be detected: >38% of patients show a hypomethylation of the IGF2/H19 imprinting region in 11p15, whereas the additional 10% carry a maternal uniparental disomy of chromosome 7. In single cases, cytogenetic aberrations can be detected. Nevertheless, there still remain 50% of SRS patients without known genetic/epigenetic alterations. To find out whether submicroscopic imbalances contribute to the aetiology of SRS, 20 idiopathic SRS patients were screened with the Affymetrix GeneChip Human Mapping 500 K array set. Apart from known apathogenic copy number variations, we identified one patient with a 12q14 microdeletion. The 12q14 microdeletion syndrome is characterised by dwarfism but it additionally includes mental retardation and osteopoikilosis. The deletion in our patient is smaller than those in the 12q14 microdeletion carriers but it also affects the LEMD3 and the HMGA2 genes. LEMD3 haploinsufficiency and point mutations have been previously associated with osteopoikilosis but radiographs of our patient at the age of 16 years did not reveal any hint for osteopoikilosis lesions. Haploinsufficiency of HMGA2 is probably responsible for aberrant growth in 12q14 microdeletion syndrome. However, in this study, a general role of HMGA2 mutations for SRS was excluded by sequencing of 20 idiopathic patients. In conclusion, our results exclude a common cryptic chromosomal imbalance in idiopathic SRS patients but show that chromosomal aberrations are relevant in this disease. Thus, molecular karyotyping is indicated in SRS and should be included in the diagnostic algorithm.
Topics: Adolescent; Chromosome Aberrations; Chromosome Deletion; Chromosomes, Human, Pair 12; Dwarfism; Female; Humans; Infant, Newborn; Intellectual Disability; Karyotyping; Male; Osteopoikilosis; Phenotype; Silver-Russell Syndrome; Syndrome; Uniparental Disomy
PubMed: 19762329
DOI: 10.1136/jmg.2009.070052 -
CMAJ : Canadian Medical Association... Mar 2011
Topics: Adult; Diagnosis, Differential; Humans; Male; Osteopoikilosis; Pelvic Bones; Radiography; Tuberous Sclerosis
PubMed: 21242266
DOI: 10.1503/cmaj.082095 -
Annals of Laboratory Medicine Mar 2019This corrects the article on p. 540 in vol. 37, PMID: 28840995.
This corrects the article on p. 540 in vol. 37, PMID: 28840995.
PubMed: 30430792
DOI: 10.3343/alm.2019.39.2.235 -
Journal of Radiology Case Reports 2009Osteopoikilosis (OP) is a very rare benign sclerosing bony dysplasia with an autosomal dominant inheritance. We describe the morphology of an osteopoikilosis male...
Osteopoikilosis (OP) is a very rare benign sclerosing bony dysplasia with an autosomal dominant inheritance. We describe the morphology of an osteopoikilosis male patient, associated with severe pain on wrist and hand joints, report on the relative literature and focus on clinical significance, due to mimicking capability of other more severe conditions such as bone metastases.
PubMed: 22470634
DOI: 10.3941/jrcr.v3i12.260 -
Reumatologia Clinica 2014
Topics: Female; Humans; Lumbar Vertebrae; Middle Aged; Osteopoikilosis; Spinal Diseases; Tomography, X-Ray Computed
PubMed: 23871154
DOI: 10.1016/j.reuma.2013.04.010 -
Ugeskrift For Laeger Jan 2015Buschke-Ollendorff syndrome is a rare condition characterized by skin manifestations and osteopoikilosis. We describe a mother and her son who presented with indurated...
Buschke-Ollendorff syndrome is a rare condition characterized by skin manifestations and osteopoikilosis. We describe a mother and her son who presented with indurated skin lesions suggestive of connective tissue naevi. X-rays showed multiple symmetrical foci of osteosclerosis. They had both been diagnosed earlier with Calvé-Legg-Perthes disease, which on revision most likely represented Buschke-Ollendorff syndrome. Buschke-Ollendorff syndrome may imitate Calvé-Legg-Perthes disease. Skin signs may be the clue to diagnosis. Main differentials are sclerotic bone metastases and osteoma.
Topics: Adult; Child; Diagnostic Errors; Female; Humans; Legg-Calve-Perthes Disease; Male; Mothers; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 25612973
DOI: No ID Found -
Rheumatology International Aug 2011Osteopoikilosis (OPK) is a rare, autosomal dominant bone disorder, characterized by multiple, discrete round or ovoid radio densities scattered throughout the axial and...
Osteopoikilosis (OPK) is a rare, autosomal dominant bone disorder, characterized by multiple, discrete round or ovoid radio densities scattered throughout the axial and appendicular skeleton. OPK is usually asymptomatic but rarely there may be slight articular pain and joint effusions. OPK is generally diagnosed incidentally on radiographic examinations and may mimic different bone pathologies, including bone metastases. Radionuclide bone scan has a critical role in distinguishing OPK from osteoblastic bone metastases. In this case report, we present a young man with right hip pain due to OPK, whose plain radiogram and computerized tomography findings thought cancer metastasis.
Topics: Adult; Anti-Inflammatory Agents, Non-Steroidal; Bone Neoplasms; Diagnosis, Differential; Humans; Male; Neoplasm Metastasis; Organotechnetium Compounds; Osteopoikilosis; Pain; Radionuclide Imaging; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 21120491
DOI: 10.1007/s00296-010-1664-2 -
The Journal of Investigative Dermatology Apr 1981The Buschke-Ollendorff syndrome is an association of cutaneous lesions, dermatofibrosis lenticularis disseminata, with osteopoikilosis. This condition is inherited in an...
The Buschke-Ollendorff syndrome is an association of cutaneous lesions, dermatofibrosis lenticularis disseminata, with osteopoikilosis. This condition is inherited in an autosomal dominant pattern. In order to clarify the biochemical nature of the skin lesions, we have examined 12 patients with the Buschke-Ollendorf syndrome, representing 2 unrelated kindreds. Histologically, the lesions were characterized by excessive amounts of unusually broad, interlacing elastic fibers in the dermis. Digestion of skin secretions with pancreatic elastase completely removed these fibers. Electron microscopy of the dermis further revealed markedly branched elastic fibers without fragmentation. The accumulation of elastin in the skin was also demonstrated by measurements of desmosine employing a radioimmunoassay. The desmosine content of the skin lesions increased 3- to 7-fold when compared to the skin either from healthy controls or from uninvolved skin adjacent to a lesion. The results indicate that the skin lesions of the Buschke-Ollendorff syndrome are connective tissue nevi of the elastin type. Cell cultures from these patients may provide a convenient model to study the control mechanisms involved in elastin metabolism.
Topics: Desmosine; Elastic Tissue; Elastin; Fibroma; Humans; Osteopoikilosis; Osteosclerosis; Skin; Skin Neoplasms; Syndrome
PubMed: 7205030
DOI: 10.1111/1523-1747.ep12526121 -
Acta Reumatologica Portuguesa 2011
Topics: Bursitis; Diabetes Mellitus, Type 2; Diabetic Retinopathy; Humans; Male; Middle Aged; Osteopoikilosis
PubMed: 21841740
DOI: No ID Found -
Clinical Orthopaedics and Related... Sep 2009
Topics: Bone Neoplasms; Child; Chronic Disease; Diagnosis, Differential; Equinus Deformity; Female; Foot; Hemangioma; Humans; Magnetic Resonance Imaging; Melorheostosis; Osteoma; Osteomyelitis; Osteopoikilosis; Radiography; Treatment Outcome
PubMed: 19198964
DOI: 10.1007/s11999-008-0677-6