Three cases of tricho-rhino-phalangeal syndrome type Ⅰ in children
Clinical data of 3 children were collected,who were diagnosed with tricho-rhino-phalangeal syndrome(TRPS)type Ⅰ at the Department of Endocrinology,Genetics,and Metabolism of Children's Hospital of Soochow University from September 2021 to February 2023,and the clinical and genetic characteristics were analyzed.All three patients exhibited short stature,sparse hair,special facial features and skeletal abnormalities.Patients 2 and 3 both had growth hormone deficiency.For short stature children with sparse hair,special facial features and skeletal malformations,it is necessary to be alert to TRPS and to complete genetic testing in time in clinical practice,in order to achieve early diagnosis and to benefit long-term management of prognosis.
tricho-rhino-phalangeal syndrome type ⅠTRPS1 geneclinical characteristicsmanagement
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