A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

ABSTRACT:

Background

Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature and limited clinical information are available to assure a proper health surveillance.

Results

A multidisciplinary team with high expertise in MALNS has been launched at the "Ospedale Pediatrico Bambino Gesù", Rome, Italy. Sixteen Italian MALNS individuals with molecular confirmed clinical diagnosis of MALNS were enrolled in the program. For all patients, 1-year surveillance in a dedicated outpatient Clinic was attained. The expert panel group enrolled 16 patients and performed a deep phenotyping analysis directed to clinically profiling the disorder and perfor

SUBMITTER: Macchiaiolo M 

PROVIDER: S-EPMC9206304 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature