July - September 2010, Volume 6, Issue 3

Dumitrescu C, Procopiuc C,Chirita C, Carsote M, Dumitrascu A, Poiana C

A case of severe growth retardation, probably Seckel syndrome

Acta Endo (Buc) 2010, 6 (3): 361-369
doi: 10.4183/aeb.2010.361

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\r\n(-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 5th finger and a slightly longer left leg. Tanner stages were P1 G1. The\r\nbiochemical panel was normal, but he presented mild hypocromic anemia. The thyroid function was normal, and the IGF1 low. The karyotype was 46 XY and the bone age 4.5\r\nyears. 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)

Keywords: Seckel syndrome, osteodysplastic dwarfism, ?bird-head? dwarfism

Correspondence: : Cristina Dumitrescu MD, “C.I. Parhon” National Institute of Endocrinology - Dept of Pediatric Endocrinology, 34-36 Aviatorilor Blvd, Bucharest 011863, Romania, Tel 004 0744421658 Email: cristina50dum@yahoo.com