1/10. langer-giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion.Mental retardation (MR) is a typical feature of langer-giedion syndrome (LGS). Only 18 cases of LGS without MR have been reported. All of them either had normal karyotype or carried a deletion not exceeding the 8q24 band. Thus, it has been proposed that MR in LGS patients is associated with larger deletions. A patient with LGS and a large 8q23.2-q24.22 deletion but without MR is reported. This case suggests that there is not any particular gene which alone is responsible for MR in LGS patients, but it is the reduced expression of a large number of genes which predisposes to MR.- - - - - - - - - - ranking = 1keywords = retardation, mental retardation (Clic here for more details about this article) |
2/10. Trichorhinophalangeal syndrome, type II (langer-giedion syndrome).Trichorhinophalangeal syndrome (TRPS) is characterized by its unique facial features and skeletal abnormalities. A bulbous, pear-shaped nose, elongated philtrum, sparse hair, cone-shaped epiphyses and mild growth retardation are found in both type I (TRPSI) and type II (TRPSII). TRPSII can be distinguished from TRPSI when multiple exostoses or redundant skin are present. While TRPSI is inherited in an autosomal dominant fashion, most cases of TRPSII are sporadic although there are a few cases which are familial. The following is a case report of TRPSII with incomplete penetrance in the index case and exostoses and growth retardation in the patient's two siblings.- - - - - - - - - - ranking = 0.3100508962149keywords = retardation (Clic here for more details about this article) |
3/10. Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer-Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the langer-giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1.- - - - - - - - - - ranking = 63.440083548996keywords = contiguous gene syndrome, gene syndrome, contiguous gene, retardation, mental retardation (Clic here for more details about this article) |
4/10. Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.A patient with the diagnosis of langer-giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome.- - - - - - - - - - ranking = 62.38386535913keywords = contiguous gene syndrome, gene syndrome, contiguous gene (Clic here for more details about this article) |
5/10. Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (langer-giedion syndrome).STUDY DESIGN: Case report of a severe upper cervical cord compression and tetraparesis by a massive cervical exostotic osteochondroma in a patient with multiple exostoses-mental retardation syndrome (langer-giedion syndrome; LGS). OBJECTIVE: To describe this very rare pathological condition and the results of surgical intervention. SETTING: Gifu, japan. methods: A 23-year-old man was referred to our clinic because of progressing tetraparesis. He had previously been diagnosed with hereditary multiple exostoses and mental retardation. As he had not complained of any symptoms, his family only noticed the tetraparesis after advanced deterioration. His face possessed the pathognomic features of LGS. A postmyelogram CT scan demonstrated an exostotic mass arising from the left-side C2 pedicle with associated severe spinal cord compression. He was diagnosed with LGS. Hemilaminectomy on the left side and resection of the osteochondroma were performed. RESULTS: At 5 years postoperatively, a neurological examination showed the full return of all motor functions. The CT scan revealed no intracanalar recurrence of the tumor. CONCLUSION: In this case of severe tetraparesis due to cervical osteochondroma, decompression by hemilaminectomy provided excellent results. In patients with LGS and intracanalar osteochondroma, the neurological deficit may be masked by mental retardation. Hence, awareness of this pathological condition will help clinicians diagnose it at an early stage.- - - - - - - - - - ranking = 1.478705465812keywords = retardation, mental retardation (Clic here for more details about this article) |
6/10. The trichorhinophalangeal syndrome with repeated dislocation of the patella.The trichorhinophalangeal syndrome associated with laxity of the skin and joints has been mistaken for ehlers-danlos syndrome (Jones 1988). We report a case of the trichorhinophalangeal syndrome which we mistook for the Larsen syndrome. literature and published photographs of the Larsen syndrome are reviewed to highlight the similarities between these two entities. These observations may be of value in the genetic mapping of the Larsen syndrome, which perhaps is a contiguous gene syndrome.- - - - - - - - - - ranking = 62.38386535913keywords = contiguous gene syndrome, gene syndrome, contiguous gene (Clic here for more details about this article) |
7/10. langer-giedion syndrome with renal cyst.Here it is reported a 4-year-old boy with langer-giedion syndrome (Trichorhino phalangeal syndrome-II), who had characteristic features of TRP II, associated with multiple renal cysts hitherto unreported. This could be a new association in this syndrome that may serve to support the concept of contiguous gene syndrome in patients with TRP II.- - - - - - - - - - ranking = 62.38386535913keywords = contiguous gene syndrome, gene syndrome, contiguous gene (Clic here for more details about this article) |
8/10. V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I.Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia. Three subtypes with considerable clinical overlap can be separated. Numerous nail changes have been documented in this syndrome. We observed a 19-year-old female with typical TRPS I who developed unique V-shaped longitudinal nail dystrophies on both hands. TRPS belongs to the spectrum of ectodermal dysplasias, and therefore it is not surprising that cutaneous adnexal structures are involved in different ways.- - - - - - - - - - ranking = 0.15502544810745keywords = retardation (Clic here for more details about this article) |
9/10. Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome.A male neonate with tricho-rhino-phalangeal syndrome type II (langer-giedion syndrome) and interstitial deletion of chromosome 8 with karyotype 46, XY, del (8) (q24.11-->q24.13) is reported. In addition to hypotrichosis of the scalp hair, abnormally bulbous nose and redundant skin, which are usually found in this syndrome, aplasia of the epiglottis and non-Finnish type congenital nephrotic syndrome were also present. He died of renal failure and respiratory failure at 11 days of age. Electron microscopy of renal necropsy showed foot process loss, focal thickening and splitting of the glomerular basement membrane and mesangial expansion. These have never been reported and could be new associations in this disease that may serve to support the concept of contiguous gene syndrome in patients with tricho-rhino-phalangeal syndrome.- - - - - - - - - - ranking = 62.38386535913keywords = contiguous gene syndrome, gene syndrome, contiguous gene (Clic here for more details about this article) |
10/10. A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.We report on an 11 year old girl with trichorhinophalangeal syndrome type I (TRPS1), postaxial polydactyly of the fingers, and a de novo paracentric inversion on the long arm of chromosome 8 involving bands q13.1 and q24.11. Molecular analysis using FISH and polymorphic dna markers detected an approximately 4 Mb, cytogenetically unidentified deletion occurring between two STSs markers, AFMB331YA9 and D8S1200, around the region of the distal inversion breakpoint. Although the deletion is large, mental retardation was not present in the patient. This is the first report of a cryptic deletion in a TRPS1 patient, both ends of which were analysed at the molecular level. The data obtained are useful for defining the location of the putative mental retardation gene(s) in TRPS1 and langer-giedion syndrome (TRPS2), as well as a locus for postaxial polydactyly.- - - - - - - - - - ranking = 0.42248727594627keywords = retardation, mental retardation (Clic here for more details about this article) |
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