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Journal of Medical Genetics Mar 1996The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I)...
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.
The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe osteopenia and all long bones were smaller than normal with cortical thinning, metaphyseal expansion, poor metaphyseal modelling, and multiple fractures. However, the vertebrae, pelvis, and shoulder girdle were of normal shape and there were few rib fractures. Histological examination of the calvarium and tibial shaft showed woven bone without lamellar bone or Haversian systems. The shafts of the long bones were widened owing to repeated fractures. Progressive enlargement of the calvarium occurred between 3 and 4.5 months of age owing to bilateral chronic subdural haematomata and a large arachnoid cyst in the Sylvian fissure. The cyst was probably developmental in origin while the subdural collections were probably the result of perinatal skull trauma. The cyst and the subdural collections resolved following drainage but ventricular dilatation with normal cerebrospinal fluid pressure followed. The proband is the first reported case of OI with a glycine substitution by alanine in the pro alpha 2(I) chain of type I procollagen.
Topics: Adult; Alanine; Arachnoid Cysts; Female; Genetic Carrier Screening; Glycine; Hematoma, Subdural; Humans; Infant; Male; Osteogenesis Imperfecta; Point Mutation; Procollagen; Skull; Tomography, X-Ray Computed
PubMed: 8728690
DOI: 10.1136/jmg.33.3.193 -
Cases Journal Nov 2008Enchondromatosis represent a heterogenous group of disorders. Spranger et al attempted a classification into 6 types: Ollier disease, Maffuci syndrome,...
Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature.
BACKGROUND
Enchondromatosis represent a heterogenous group of disorders. Spranger et al attempted a classification into 6 types: Ollier disease, Maffuci syndrome, metachondromatosis, spondyloenchondrodysplasia, enchondromatosis with irregular vertebral lesions, and generalized enchondromatosis. Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al.
CASE PRESENTATION
We report on a 15-year-old boy with acrofrom upper limbs and mixed appearance of radiolucency, cysts and striae of fibro-chondromatosis. Lower limbs (femoral, tibial and fibular dysplasia showed enlarged metaphyses near the knees bilaterally) were present. Additional features of short stature, macrocephaly, facial dysmorphism, and generalised platyspondyly have been encountered. These bone shortenings were associated with bone bending, curving and rhizomelia of the upper limbs with significant macrodactyly. Limitations in articular movements were present. The forearm deformities were similar to those observed in hereditary multiple exostosis.
CONCLUSION
The acrofrom upper limbs with mixed appearances of radiolucencies, cysts and striae of fibro-chondromatosis are the basic features of type I1Spranger. The constellation of facial dysmorphic features and significant vertebral abnormalities in our present patient were not compatible with the above-mentioned type of enchondromatosis. Our report widens the knowledge of disorders characterised by enchondromatosis. Ascertainment of the mode of inheritance in our present patient was difficult because of insufficient family history and parents declined clinical/radiographic documentation.
PubMed: 19017386
DOI: 10.1186/1757-1626-1-324 -
International Orthopaedics 2003We used Magnetic resonance imaging (MRI) in five patients (six knees), mean age 13.2 (12-15) years, with late-onset tibia vara (Blount's disease), to study the growth...
We used Magnetic resonance imaging (MRI) in five patients (six knees), mean age 13.2 (12-15) years, with late-onset tibia vara (Blount's disease), to study the growth plate and its abnormalities. The MRI study was classified for severity of disease and compared with a radiographic classification. In severely involved knees, MRI indicated severe growth-plate changes on both sides of the knee joint. Widening in the entire proximal tibial growth plate, involvement of the distal femoral growth plate, as well as cartilage invaginations into the metaphyses, were constant findings. Three knees were treated operatively with oblique tibial osteotomy and three with lateral hemiepiphysiodesis. Two severely involved patients treated initially with hemiepiphysiodesis required additional surgery. The three patients with mild disease treated with tibial osteotomy had good clinical and functional results. This study suggests that extensive growth-plate changes in severe, late-onset tibia vara preclude successful treatment by tibial hemiepiphysiodesis. In addition, oblique osteotomy, which was successful in mild cases, was problematic in severe cases.
Topics: Adolescent; Bone Diseases, Developmental; Child; Growth Plate; Humans; Knee; Magnetic Resonance Imaging; Male; Obesity; Severity of Illness Index; Tibia; Treatment Outcome
PubMed: 12748828
DOI: 10.1007/s00264-003-0467-4 -
Human Molecular Genetics Nov 2012Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal...
Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses. At the histopathological level, there is a paucity of osteoclasts when the disease presents. In two patients with DSS, we identified homozygous or compound heterozygous missense mutations in SLC29A3 by whole-exome sequencing. This gene encodes a nucleoside transporter, mutations in which cause histiocytosis-lymphadenopathy plus syndrome, a group of conditions with little or no skeletal involvement. This transporter is essential for lysosomal function in mice. We demonstrate the expression of Slc29a3 in mouse osteoclasts in vivo. In monocytes from patients with DSS, we observed reduced osteoclast differentiation and function (demineralization of calcium surface). Our report highlights the pleomorphic consequences of dysfunction of this nucleoside transporter, and importantly suggests a new mechanism for the control of osteoclast differentiation and function.
Topics: Amino Acid Sequence; Animals; Child, Preschool; Consanguinity; Exome; Female; Humans; Infant; Mice; Molecular Sequence Data; Mutation; Nucleoside Transport Proteins; Osteopetrosis; Osteosclerosis; Radiography; Sequence Alignment
PubMed: 22875837
DOI: 10.1093/hmg/dds326 -
Cuadernos de Bioetica : Revista Oficial... 2013Personalism not only provides a valuable contribution to those interested in bioethics by allowing contrasts with other schools and currents of thought, but its ethical...
Personalism not only provides a valuable contribution to those interested in bioethics by allowing contrasts with other schools and currents of thought, but its ethical and anthropological features can serve to widen the horizon of reason. Bioethics today needs to expand the horizon of rationality in which it is animated through: 1) An ontologically ground personalism thanks to which the personal being emerges with all its evidence as being in the most proper sense of being. 2) The overcoming of subjectivism-objectivism antinomy through the claim that human subjectivity is an objective fact. 3) The recognition of the personalistic norm of action as a fundamental precept of natural law. When bioethics is built with openness to the objective datum of subjectivity it becomes easy to appreciate the human person as a real aim that should not be used as mere means. 4) The discovery of the normative basis of the moral life, because determining the ultimate end of human action is not the same as obtaining an ultimate justification of the norms of human action. When this distinction is deeply assimilated, it can show that the precepts of natural law must be respected regardless the acceptance of God's existence.
Topics: Bioethics; Metaphysics; Personhood
PubMed: 23745817
DOI: No ID Found