Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Presented are 4 cases showing combined occurrence of lenticular disseminated dermatofibrosis and osteopoikilosis (Buschke-Ollendorff syndrome). Histological findings of the skin show localized increases in elastic and collageneous structures. Type I of the Buschke-Ollendorff syndrome which is characterized by disseminated small pepper-corn like changes in the skin must be differentiated from type II which is named "dermatofibrosis nodularis xanthomatoides multilokularis" with osteopoikilosis, showing larger, single or plaque like connected changes of the skin. The Buschke-Ollendorff syndrome is a congenital autosomal dominant hereditary abnormality arising from the mutual mesodermal genesis of skin and bone changes. The Buschke-Ollendorff syndrome occasionally brings about impaired growth and mental retardation as well as rheumatoid complaints. Osteopoikilosis always appears symmetrically showing different changes in the bones usually without changes in the skin; in the contrary the lenticular disseminated dermatofibrosis is always occurring combined with findings of osteopoikilosis. During the growing years we observed patients with an increase in size and density of the bone changes and also new lesions, while the skin changes remained nearly the same.
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PMID:[Dermatofibrosis lenticularis disseminata with osteopoikilosis (Buschke-Ollendorff syndrome)]. 715 89

We present a 40-year-old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our knowledge, the association of MSBD and mental retardation has not been previously reported.
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PMID:Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome? 764

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy.
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PMID:Osteopetrosis. 1923 11

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.
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PMID:Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. 1976 29

12q14 microdeletion syndrome consists of the association of short stature, mental retardation, and osteopoikilosis. Since its first description in 2007, there have been <20 cases reported and each case presented variable phenotypes. We present a girl with 12q14 microdeletion that showed mental retardation and short stature but without osteopoikilosis. She also exhibited precocious puberty and growth hormone deficiency and required treatment for improving final height. This report adds further to the knowledge of the endocrinological anomalies in 12q14 microdeletion syndrome. It is important to perform growth hormone level measurements and pubertal signs to follow-up with these patients and avoid the consequential adult height worsening.
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PMID:Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition. 2446 4