Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features
نویسندگان
چکیده
منابع مشابه
Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.
The present study shows the occurrence of the trichorhinophalangeal syndrome type I in a Swedish family. Five members were affected and they were examined clinically and radiologically, and four of them were also cytogenetically examined. Three of them had dysplasia of the hip joints reminiscent of the Legg-Calvé-Perthes disease. Functional hand problems were common. High resolution G banding d...
متن کاملTrichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case.
BACKGROUND Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant disorder clinically characterized by sparse and slow-growing hair, pear-shaped nose, elongated philtrum, thin upper lip, and bone deformities, in particular, cone-shaped epiphyses of the phalanges. Very recently, the responsible gene TRPS1 has been cloned on human chromosome 8q24. OBSERVATION We describe a ...
متن کاملTrichorhinophalangeal Syndrome
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...
متن کاملTrichorhinophalangeal Syndrome
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...
متن کاملTrichorhinophalangeal Syndrome
Trichorhinophalangeal syndrome (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic. The diagnosis of the different types ...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2014
ISSN: 0378-6323
DOI: 10.4103/0378-6323.125515