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)

Chondrodysplasia Punctata is a disease belonging to the metaphysia syndrome. This disease is characterized by endochondral punctata calcification of epiphysis or apophysis, short legs and hands, arthrogryposis, saddle nose, ichthyosis, cataract and mental retardation. This report concerns a case of Chondrodysplasia Punctata (Rhizomeric form) in a 4 year 1 month old girl. Observations were made from the dental point of view, and the findings were as follows: 1) The mesio-distal and bucco-lingual lengths of all primary teeth were smaller than the standard size. 2) Measuring the dental cast, the width of the dental arch was found to be larger, but the length of the arch was found to be smaller than the standard size. 3) The value of the palatal height was slightly smaller, compared with that of the normal children. 4) According to X-ray cephalometric analysis, the growth of the mandible was insufficient. 5) An enlargement of the angles of the teeth axes of the upper and lower central incisors was found. 6) The growth of the basal arches of the maxilla and mandible were shown to be retarded in the anterior portion. 7) Measurement of the area of the tubella sella triangle, revealed the posterior parts to be large and almost standard in the mesofacial part, and small in the mandibulo-facial parts.
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PMID:[Dental findings in a case of Chondrodysplasia Punctata]. 213 55

Mucopolysaccharidosis type VII (MPS VII) is a heritable lysosomal storage disease caused by a deficiency in beta-glucuronidase (GUSB) activity, leading to progressive accumulation of undegraded glycosaminoglycans in many tissues. Clinical features include growth and mental retardation, hearing and visual defects, shortened lifespan, and skeletal deformities. A murine model of MPS VII has been described that shares many of the manifestations of the human disease, including the skeletal dysplasia. In this study we describe abnormalities in the cellular morphology and function of osteoclasts and a localized defect in bone formation rate in the MPS VII mouse. Ultrastructural analysis revealed that MPS VII osteoclasts fail to form ruffled border membranes and many appeared to be detached from the bone surface. Following bone marrow transplantation, osteoclasts derived from wild-type donors showed normal morphology and were closely associated with the bone surface in MPS VII recipients. In vitro bone resorption assays demonstrated that MPS VII osteoclasts formed significantly smaller and fewer pits than those formed by osteoclasts derived from normal mice of the same strain. Although osteoclast morphology and function appeared to be abnormal in the MPS VII mouse, interleukin-1 (IL-1)-induced osteoclastogenesis in vivo was not affected. In addition to the osteoclast defects, MPS VII mice demonstrated a slower rate of bone matrix deposition in the epiphysis by in vivo calcein labeling experiments. These data suggest that abnormal morphology and function of MPS VII osteoclasts, combined with deficient matrix deposition, may contribute to the skeletal defects observed in this lysosomal storage disease.
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PMID:Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease. 1185 42

We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
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PMID:Acrodysostosis: autosomal dominant transmission. 1614 86