Trichorhinophalangeal Syndrome
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Submit Manuscript | http://medcraveonline.com (Figures 1 & 2). Intellectual development was normal and absence of similar cases in the family. The laboratory tests requested were hemogram, electrolytes, albumin, glycemia, thyrotrophic hormone, parathyroid hormone, vitamin D and zinc; all normal. Radiographs showed bone changes of the phalanges, with cone-shaped epiphyses (Figure 3) and advanced bone age in 2 years. Trichogram with 44% anagen, 53% telogen, 1% catagen and 2% dystrophic anagen.
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High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder with typical craniofacial and skeletal abnormalities. Three main subtypes have been described. All variations of the condition affect the hair (tricho), nose (rhino) and fingers (phalangeal). The diagnosis is usually made through clinical examination augmented by hand radiographs that reveal characteristic cone-shaped epiphyses Sp...
متن کاملOrthognathic surgery for a patient with trichorhinophalangeal syndrome type I: a case report.
Trichorhinophalangeal syndrome (TRPS) type I is characterized by slowly progressing systemic osseous dysplasia, exhibiting craniofacial and other skeletal deformities. However, there have been few reports describing this syndrome after undergoing orthognathic surgery. In this report, we present a patient with TRPS I who successfully underwent orthognathic surgery. In addition, we examined the s...
متن کاملTRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome.
Trichorhinophalangeal syndrome types I and III (TRPS1, OMIM 190350; TRPS3, OMIM 190351) are rare hereditary diseases with autosomal dominant inheritance (1, 2). The first case was reported in 1966 (3). In 2000 the TRPS1 gene was identified as one of its causative genes and mapped to chromosomal region 8q24.1 (1). These syndromes have characteristic sparse and slow-growing hair, craniofacial abn...
متن کاملA 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, AFMB331Y...
متن کاملTrichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene
Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses. Case Report. We describe a spo...
متن کاملTrichorhinophalangeal syndrome type II presenting with short stature in a child.
Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochon...
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