477 research outputs found
Os et articulations : le sport soumet notre squelette à rude épreuve... pour le meilleur et pour le pire !
No full textDossier sur les os et articulations du sportif. Sommaire : 'Petites histoires d'os' (mille et une choses étonnantes à propos de notre squelette), 'Mythes et croissance' (sport et croissance : interview de Daniel Courteix, directeur du laboratoire de biologie des APS à Clermont 2), 'Entre marbre et verre' (interview de Martine Le Merrer, responsable du centre de référence sur les maladies osseuses constitutionnelles à l'hôpital Necker), 'La série Urgences' (traumatologie articulaire et osseuse : interview de Jacques Rodineau, médecin spécialiste dans la rééducation fonctionnelle à la Pitié-Salpêtrière), 'La mort des os' (interview de Didier Hannouche, chirurgien orthopédiste spécialiste des nécroses osseuses et des techniques de reconstruction), 'Squelette en voie de disparition' (vieillissement, ostéoporose : interview de Martine Cohen-Solal, rhumatologue spécialiste des maladies osseuses
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss
No full textCraniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. Six distinct ANKH mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T>C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early-onset conductive hearing loss, and a generalized undermodeling of the long bones. The c.1172T>C (p.Leu391Pro) mutation in Patient B was associated with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones. A milder phenotype without cranial nerve affection was observed in Patient C, associated with a c.1001T>G (p.Leu334Arg) mutation. All affected residues lie in evolutionarily conserved sequence blocks. These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. (c) 2010 Wiley-Liss, Inc
Ellis-Van Creveld syndrome
No full textAbstract Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.</p
Ostéogenèse imparfaite et dentinogenèse imparfaite : frontières diagnostiques et intérêt en orthopédie dento-faciale
No full textL'ostéogenèse imparfaite est une maladie génétique de
sévérité variable et caractérisée par une augmentation
de la fragilité osseuse responsable de nombreuses fractures. Des
manifestations extra-squelettiques peuvent être observées :
sclérotiques bleues, dentinogenèse imparfaite, surdité. Dans la
plupart des cas, une anomalie du collagène I est responsable de la
maladie. Cette pathologie s'accompagne d'une morphologie cranio-faciale
particulière, avec une typologie de classe III, des béances, et une
prévalence augmentée d'inclusion des molaires permanentes.
L'orthodontiste confronté à de tels patients devra prendre en compte
l'état dentaire, observer les précautions antibactériennes et
antihémorragiques, et connaître les effets secondaires des
bisphosphonates, traitement médical actuel
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo‐Morquio type II syndrome): Report of a new patient and review of the literature
No full textWhen Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
No full textMucolipidosis II (ML II) and Mucolipidosis type III (ML III) are autosomal recessive disorders of lysosomal hydrolases trafficking due to the deficiency of the multimeric enzyme, UDP-N-acetylglucosamine-l-phosphotransferase. The alpha/beta subunits encoded by the GNPTA gene is the catalytic subunit of the enzyme while the gamma recognition subunit is encoded by the GNPTAG gene. We report the molecular analysis of GNPTA in 21 families with ML IT and 3 families with ML III. The ML II mutant genotypes included three splice-site mutations [TVs] -2A > G; IVS17 + IG > A; IVSI 8 + IG > A] in seven Palestinian, Israeli Arab-Muslims, and Turkish patients; a two base pair deletion [c.3502_3delCT] in I I patients from Israel, Turkey, and Ireland; two nonsense mutations [c.2533C > T (Q845X); c.3613C > T (R 1205X)], in a Turkish and an Arab-Muslim patient from the Nablus area, respectively, and an insertion mutation [c.2916insT] in a patient from Nablus. The ML III mutant genotypes included a splice-site mutation [IVS17 + 6T > G] in two patients from Irish/Scottish origin who were compound heterozygous for a nonsense mutation fe.3565C > T (R1189X)] and the deletion mutation [c.3502_3delCT], respectively. The third ML III patient from France was compound heterozygous for a missense mutation [c.1196C > T] and the same deletion [c.3502_3delCT] found homozygous in I I ML II patients. The 21 ML II patients were homozygous while the three ML III patients were compound heterozygous for mutations in GNPTA. The results of this study confirm that ML II or ML III phenotype is not due to the localization of the mutations, but rather to the severity of the mutations, ML II and ML III might be allelic, and ML III is genetically heterogeneous. We suggest that the diseases due to mutations in GNPTA represent a clinical continuum between ML III and ML II, and the classification of these diseases should be based on the age of onset, clinical symptoms, and severity. C 2006 Elsevier Inc. All rights reserved
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