Dysplasia, skeletal

Development of MMP null mice carrying specific MMP deletions has provided an opportunity to explore the role of MMPs in normal development as well as in such diverse conditions and diseases as skeletal dysplasias, coronary artery and heart disease, arthritis, cancer, and brain disorders. 

Thanatophoric (Gk thanatos "death" + pharos "bearing") dysplasia is the most common neonatal lethal skeletal dysplasia, displaying features similar to those of homozygous achondroplasia. 

Parathyroid Hormone Receptor Mutations and Skeletal Dysplasias... 

Duchatelet, S., Ostergaard, E., Cortes, D., Lemainque, A., and Juher, C. (2005) Recessive mutations in PTHRl cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum. Mol. Genet. 14, 1-5. 

Syndrome Mevalonate kinase deficiency (MA/HIDS) CHILD syndrome CDPX2 HEM skeletal dysplasia Lathosterolosis Desmosterolosis Smith-Lemli-Opitz syndrome... 

As an alternative, primary skin fibroblasts or lymphoblasts of patients suspected to be affected with a cholesterol biosynthesis defect can be cultured for 3-7 days in medium supplemented with fetal calf serum depleted of lipoproteins to induce cholesterol biosynthesis, whereupon the specific defect can be determined by sterol analysis using GC-MS as described above. This procedure will readily identify patients affected with Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, hydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia and most patients with Conradi-Hunermann syndrome (CDPX2). Patients with congenital hemidys-plasia with ichthyosiform nevus and limb defects (CHILD) syndrome may not be identified with this assay, but they can be readily diagnosed on the basis of their typical clinical presentation. 

Kanazawa H, Tanaka H, Inoue M, Yamanaka Y, Namba N, Seino Y. Efficacy of growth hormone therapy for patient with skeletal dysplasia. J Bone Mineral Metab 2003 21 307-10. 

Waterham, H., Koster, J., Mooyer, R, Noort, G.G., Kelley, R., Wilcox, W., Wanders, R., Hennekam, R. and Oosterwijk, J. (2003) Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3beta-Hydroxysterol Deltal4-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene. Am. J. Hum. Genet. 72, 1013-1017. 

Mucopolysaccharidosis I (Hurler, Hurler-Scheie and Scheie syndromes) a-L-Iduronidase HS, DS Short stature, skeletal dysplasia, coarse facial features, joint stiffness, visceromegaly, cardiac disease, comeal clouding, CNS involvement... 

Mucopolysaccharidosis IIIA (Sanfilippo A syndrome) Heparan N -sulphatase HS Coarse hair, CNS involvement, aggressive behaviour, dysmorphic features (-1-/—), skeletal dysplasia (-1-/—)... 

Mucopolysaccharidosis IVA N-Acetylgalactosamine KS Short stature, skeletal dysplasia, cardiac disease, comeal... 

Skeletal dysplasia, visceromegaly, CNS involvement Cardiac and renal disease, angiokeratoma, CNS involvement... 

NaseUi A, Vignolo M, Di Battista E, Garzia P, Forni GL, Traverse T, Aicardi G. Long-term follow-up of skeletal dysplasia in thalassaemia major. J Pediatr Endocrinol Metab 1998 ll(Suppl 3) 817-25. 

De Sanctis V, Stea S, Savarino L, Scialpi V, Traina GC, Chiarelli GM, Sprocati M, Govoni R, Pezzoli D, Gamberini R, Rigolin F. Growth hormone secretion and bone histomorphometric study in thalassaemic patients with acquired skeletal dysplasia secondary to desferrioxamine. J Pediatr Endocrinol Metab 1998 ll(Suppl 3) 827-33. 

Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, et al. Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet 2000 67 1411-21. 

Orioli I, Castilla E, Barhosa-Neto J. The birth prevalence rates for skeletal dysplasias. J Med Genet 1986 23 328-32. 

Parathyroid Hormone Receptor, Skeletal Dysplasias, and Primary Failure of Tooth Eruption... 

Wynne-Davies R, Hall CM, Apley AG. Atlas of skeletal dysplasias. Churchill Livingstone, Edinburgh. 1985 19. 

CatA deficiency or mutations affecting the structural integrity of CatA, therefore, lead to accumulation of sialylated glycoconjugate substrates of Neu-1 and later to the severe genetic disease galactosialidosis [10]. Common clinical signs are massive edema, skeletal dysplasia, cherry red spots on the retina, and neurological deterioration. 

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