Search results for " Polyostotic"
showing 5 items of 5 documents
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
Management of fibro-osseous lesions of the craniofacial area: presentation of 19 cases and review of the literature
2013
Introduction: Fibro-osseous lesions constitute a rare benign type of pathology with a non-odontogenic lineage that affect the craniofacial area. According to Waldrom’s classification, these lesions are divided into: fibrous dysplasia (FD), cemento-ossifying fibroma (COF) and desmoplastic fibroma (DF). Material and Methods: A retrospective study was performed on patients diagnosed with fibro-osseous lesions of the craniofacial area at the Hospital Universitario La Fe, Valencia, during 1987-2009. A total of 19 cases were collected: 15 cases compatible with an FD diagnosis, 3 cases with a COF diagnosis and 1 case with a DF diagnosis. Results: In the differential diagnosis, entities having simi…
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystroph…
2003
OBJECTIVE: To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine. CASE REPORT: A six-year-old boy presented with psychomotor retardation and congenital primary hypothyroidism (CH). The patient had a normal blood thyrotrophin (TSH) level on neonatal screening, but low total serum thyroxine and triiodothyronine concentrations prompting thyroid hormone substitution shortly after birth. Nevertheless, psychomotor development was retarded and the patient underwent further investigation. Typical features of Albright's hereditary osteodystrophy (AHO) such as round face, obesity, and…
Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.
2021
Abstract Background The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovarian cysts with autonomous Hyperestrogenic stimulation. After menarche, the majority of patients with ovarian GNAS mutation have menstrual disturbances and infertility. Objectives We wanted to focus on the fertility of MAS females and propose an appropriate management, by a detailed case report and an exhaustive review of the literature on fertility and pregnancy in MAS females. Results We present the case of a 29-year-old MAS female, who…
Maxillary bone lesions in McCune-Albright syndrome:a case report
2011
Abstract Objectives In this study, we report on the clinical maxillary manifestations of a patient affected by McCune-Albright syndrome and the implications for orthodontic therapy. Materials and methods A male, 8-year-old patient was examined at the Department of Orthodontics of the University of L’Aquila for a problem of anterior open-bite. In the clinical examination, a small swelling of the left hemi-maxilla was seen in the area corresponding to the root apex of 16 and under the tooth buds of 14 and 15. In a panoramic radiograph, a radio-opaque area was detected in this zone. From the computer tomography examination, a bone lesion was identified. Results Identification of this bone lesi…