Laurence-Moon-Bardet-Biedl Syndrome: Fortuitous Diagnosis in an Atopic Child

Autor: Pooja Agarwal, Pooja Shah, Raju Chaudhary, Kalgi Baxi
Rok vydání: 2023
Zdroj: Indian Journal of Postgraduate Dermatology. 1:51-53
ISSN: 2836-3892
2837-2867
DOI: 10.25259/ijpgd_14_2022
Popis: 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.
Databáze: OpenAIRE
Externí odkaz: