hrp0089p3-p219 | Growth & Syndromes P3 | ESPE2018
Albu Alice
, Nicolaescu Irina Delia
, Dinca Denisa
Autosomal dominant cutis laxa type 3 (ADCL3) is a genetic connective tissue disorder characterized by poor pre- and postnatal growth and, rarely, by systemic impairment. The aetiology of short stature is incompletely known, some of these patients reaching normal final height. Less than 50 cases were reported in the literature. We report the case of a male patient 3.2 years old who presented for endocrinological evaluation of short stature. His medical history reveals congenita...