Marfan-like syndrome- Boileau type

Overview

A rare disorder that is similar to Marfan syndrome but tends to only involve skeletal and cardiovascular symptoms and signs.

Symptoms

* Aortic dilation * Sudden death due to aortic dissection * Long limbs * Deformed ribcage * Mitral valve prolapse

Causes

* 14q+ syndrome * 1q deletion * 1q terminal deletion * 2q deletion * 3-methylglutaconic aciduria, type 1

Treatment

* Skin Health Specialists (Dermatology): o Dermatology (Skin Health Specialists) o Dermatopathology o Pediatric Dermatology (Child Skin Health) o Dermatological Immunology / Diagnostic Laboratory