hrp0098p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Rare combinations: Loeys-Dietz Syndrome Type 2 with Type 1 Diabetes mellitus and Loeys-Dietz Syndrome Type 4 with congenital hypothyroidism due to thyroid hypoplasia.

Karatsiolis Platonas , Rakicioglu Hande , Wolf Felicitas , Biskup Saskia , Dewenter Malin , Meinhardt Andrea , Kamrath Clemens , Wudy Stefan

The Loeys-Dietz-Syndrome is a connective tissue disease, which belongs to the group of Marfanoid syndromes. LDS is classified into 6 different subtypes according to the underlying mutation. All mutations are autosomal dominant inherited. Patients with Loeys-Dietz-Syndromes are characterized from cardiovascular and skeletal malformations, like aneurysms of aorta and other arteries, pectus excavatum, pectus carinatum, chicken- or funnel breast, arachnodactyly clubfoot, scoliosis...