A CASE OF SEVERE GROWTH RETARDATION, PROBABLY SECKEL SYNDROME

作者：Dumitrescu C^*; Procopiuc C; Chirita C; Carsote M; Dumitrascu A; Caragheorgheopol A; Poiana C

来源：Acta Endocrinologica-Bucharest, 2010, 6(3): 361-369.

DOI：10.4183/aeb.2010.361

• Seckel syndrome
• osteodysplastic dwarfism
• &quot
• bird-head&quot
• dwarfism

We report the case of a 6.6 years old boy, born to healthy unrelated parents, from a normal pregnancy, admitted for severe growth retardation. His height was 71 cm (-9.3 SD), with a weight of 6.6 kg and he presented a triunghiular face, mycrognatia, proeminent nose and hypertelorism resulting in a "bird headed" profile. He associated clinodactyly of the 5(th) finger and a slightly longer left leg. Tanner stages were P1 G1. The biochemical panel was normal, but he presented mild hypocromic anemia. The thyroid function was normal, and the IGFI low. The karyotype was 46 XY and the bone age 4.5 years. The pituitary computed tomography revealed empty sella. Based on the clinical picture, the possible diagnosis of Seckel syndrome was suspected. A short course of treatment with Metandienonum 0.04 mg/kg/day for 3 months was recommended, without success (growth speed of 6 cm/year - -0.14 SD)

• 出版日期2010-9