P. Agarwal, P. Shah, Raju G. Chaudhary, Kalgi D. Baxi
{"title":"Laurence-Moon-Bardet-Biedl综合征:特应性儿童的偶然诊断","authors":"P. Agarwal, P. Shah, Raju G. Chaudhary, Kalgi D. Baxi","doi":"10.25259/ijpgd_14_2022","DOIUrl":null,"url":null,"abstract":"Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. It is characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, and hypogonadism. It is one of the few rare genetic diseases which can be diagnosed easily on a clinical basis and does not rely on laboratory investigations and genetic analysis for the diagnosis. We report a case of an adolescent boy who presented to us primarily for atopic dermatitis, who had typical features of LMBBS which had been overlooked till he came to our hospital.","PeriodicalId":339918,"journal":{"name":"Indian Journal of Postgraduate Dermatology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Laurence-Moon-Bardet-Biedl Syndrome: Fortuitous Diagnosis in an Atopic Child\",\"authors\":\"P. Agarwal, P. Shah, Raju G. Chaudhary, Kalgi D. Baxi\",\"doi\":\"10.25259/ijpgd_14_2022\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. It is characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, and hypogonadism. It is one of the few rare genetic diseases which can be diagnosed easily on a clinical basis and does not rely on laboratory investigations and genetic analysis for the diagnosis. We report a case of an adolescent boy who presented to us primarily for atopic dermatitis, who had typical features of LMBBS which had been overlooked till he came to our hospital.\",\"PeriodicalId\":339918,\"journal\":{\"name\":\"Indian Journal of Postgraduate Dermatology\",\"volume\":\"1 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-02-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Postgraduate Dermatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/ijpgd_14_2022\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Postgraduate Dermatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/ijpgd_14_2022","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Laurence-Moon-Bardet-Biedl Syndrome: Fortuitous Diagnosis in an Atopic Child
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. It is characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, and hypogonadism. It is one of the few rare genetic diseases which can be diagnosed easily on a clinical basis and does not rely on laboratory investigations and genetic analysis for the diagnosis. We report a case of an adolescent boy who presented to us primarily for atopic dermatitis, who had typical features of LMBBS which had been overlooked till he came to our hospital.