| We report a 4-year-old girl with characteristic features of the langer-giedion syndrome (trichorhinophalangeal syndrome type II) who also had submucous cleft palate. When she underwent a palatoplasty, a diagnosis of langer-giedion syndrome was made because of the characteristic facial features, multiple exostoses, and partial deletion of the long arm of chromosome 8. This is the first case of trichorhinophalangeal syndrome associated with cleft palate. We review the clinical alterations of trichorhinophalangeal syndromes and differential diagnosis of langer-giedion syndrome from trichorhinophalangeal syndrome type I and hereditary multiple exostoses. We also describe the importance of trichorhinophalangeal syndrome in plastic surgery. ( info) |
2/26. Tibial hemimelia in langer-giedion syndrome-possible gene location for tibial hemimelia at 8q. We report on a girl with langer-giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turleau et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II is 8q24.1. Although no genes involving limb development in the human have been identified in this region, two mouse syndromes are localized to the homologous chromosome region of 9A1-A4 which involve limb abnormalities. We propose that a gene involved in limb development is contiguous with the TRPS II gene which, when deleted, may cause tibial hemimelia. ( info) |
3/26. 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. ( info) |
4/26. Trichorhinophalangeal syndrome type II: case report. patients with the trichorhinophalangeal syndrome type II, also known as the langer-giedion syndrome, may present to the health care-givers or physicians in various specialties and need to be recognised in order that accurate diagnosis, management and counselling about prognosis and recurrence risks may be carried out. A case of young male with this condition is presented. ( info) |
5/26. Abnormal modelling of the humeral head in the tricho-rhino-phalangeal syndrome: a new radiological observation. The case of a 27-year-old female patient with tricho-rhino-phalangeal (TRP) type I syndrome is reported. The patient demonstrated the classical features of slowly growing hair, a bulbous nose and brachydactyly with swelling at the interphalangeal joints, but in addition showed some of the less common manifestations such as supernumerary teeth and prognathism. To the authors' knowledge this is the first reported case in which modelling abnormalities of the proximal humerus mirror those seen in the femoral head. This adds weight to the argument that the skeletal abnormalities in TRP are part of a generalized bone dysplasia. ( info) |
6/26. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1. ( info) |
7/26. 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. ( info) |
8/26. 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. ( info) |
9/26. 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. ( info) |
10/26. The tricho-rhino-phalangeal syndrome--a case report. The diagnosis of tricho-rhino-phalangeal (TRP) syndrome may sometimes be confused with hypohidrotic ectodermal dysplasia (HED). Some of the facial features are similar but the hands of patients with TRP often have short distal phalanges, deviation at the proximal interphalangeal joints and, radiologically, a specific distribution of cone-shaped epiphyses. This report describes a case of TRP syndrome with previously unreported hypodontia, which increases the similarity between TRP and HED. ( info) |