[Tricho-rhino-phalangeal syndrome, type I].
نویسنده
چکیده
Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant and recessive transmission are suggested. The presence of cone-shaped epiphyses, the major complaint of patients due to swelling over the phalangeal joints, requires differential diagnosis among various syndromes. This paper, describing a ten-year-old girl with TRPS I, aims to bring the features of the syndrome to medical attention.
منابع مشابه
Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.
The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The mos...
متن کاملThe tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds.
Tricho-rhino-phalangeal syndrome is probably not so much uncommon as unrecognised. Its significance to orthopaedic surgeons, apart from the functionally unimportant minor finger deformities, lies in its mimicking both Perthes' disease and diaphyseal aclasis. The 14 cases analysed in this paper illustrate the wide range of clinical variation.
متن کاملThe tricho-rhino-phalangeal syndrome.
The tricho-rhino-phalan-geal syndrome is characterized by sparse fine hair, bulbous nose, and brachydac-tyly. The clinical and radiological findings of four affected family members, a father and his three children, are presented. Cardiovascular anomalies, previously unreported in this syndrome,were present in one of the children. Psychological and immunological evaluations were found to be esse...
متن کاملA novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
Tricho-rhino-phalangeal syndrome (TRPS) is a heritable congenital syndrome characterized by craniofacial and skeletal abnormalities. TRPS is an autosomal dominant syndrome with high penetrance and wide phenotypic variability. TRPS is classified into three subtypes; TRPS types I (TRPS I; OMIM 190350) and III (TRPS III; OMIM 190351) have distinct clinical manifestations that often correspond to d...
متن کاملThe Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression
TRPS1 is a GATA-type transcription factor that is closely related to human tricho-rhino-phalangeal syndrome (TRPS) types I and III, variants of an autosomal dominant skeletal disorder. During embryonic development, Trps1 represses Sox9 expression and regulates Wnt signaling pathways that determine the number of hair follicles and their normal morphogenesis. In the growth plate, Trps1 regulates ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Indian journal of pediatrics
دوره 60 2 شماره
صفحات -
تاریخ انتشار 1993