Marfan syndrome is an autosomal dominant genetic disorder resulting from fibrillin gene mutation. The connective tissue in heart, eyes, skeletal, lungs, and central nervous system is affected.
A girl from non-consanguineous family was referred to pediatric endocrine department because of tall stature, joint pain for six months, and transverse striae of the back. It was learned from her family history that two uncles had tall stature and very long extremities. This 12-year-old girl was born with weight of 4000 g by caesarean section. On physical examination, height was 182.3 cm (>97p), height SDS 3.92, weight 67.1 kg (75-90p), weight SDS 1.75, body mass index 20.19, body mass index SDS 0.54, arm span 186 cm (>97p), and arm span SDS +4.5. On physical examination, the patient with the long-facial appearance had high-arched palate, long limbs and legs, purple-guinea-colored transverse striae of back, arachnodactyly, genu recurvatum, joint laxity, hypermobility, pes planus, scoliosis, and pectus excavatum. The Beighton score 7/9 for hypermobility and Tanner 4 for puberty were detected.
Full blood count, biochemical analysis, thyroid function, and pubertal hormone tests were found to be normal in terms of tall stature. Serum levels of IGF-1 and IGFBP-3 ranged from 0 to +1 SDS. Echocardiography revealed mitral valve prolapse. The eye examination was normal in terms of lens subluxation.
In this report, Marfan syndrome with tall stature and transverse striae of the back was presented. Early diagnosis and appropriate treatment will prevent the development of complications.