Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
نویسندگان
چکیده
منابع مشابه
The 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 کامل[Tricho-rhino-phalangeal syndrome, type I].
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 w...
متن کاملPseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
OBJECTIVES Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radio...
متن کاملPseudohypoparathyrodism vs. tricho-rhino- phalangeal syndrome: patient reclassification
Objectives: Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radi...
متن کاملSkeletal 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...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2015
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2015.03.002