A CASE OF SEVERE GROWTH RETARDATION, PROBABLY SECKEL SYNDROME

被引：2
|
作者：
Dumitrescu, C. [1 ]
Procopiuc, C. [1 ]
Chirita, C. [1 ]
Carsote, M. [4 ]
Dumitrascu, A. [3 ]
Caragheorgheopol, A. [2 ]
Poiana, C. [4 ]
机构：
[1] CI Parhon Natl Inst Endocrinol, Dept Pediat Endocrinol, Bucharest 011863, Romania
[2] CI Parhon Natl Inst Endocrinol, Dpt Hormonal Biochem, Bucharest 011863, Romania
[3] CI Parhon Natl Inst Endocrinol, Dpt Computed Tomog, Bucharest 011863, Romania
[4] C Davila Univ Med & Pharm, Dpt Endocrinol, Bucharest, Romania
来源：
ACTA ENDOCRINOLOGICA-BUCHAREST | 2010年 / 6卷 / 03期
关键词：
Seckel syndrome; osteodysplastic dwarfism; bird-head" dwarfism; BIRD-HEADED DWARFISM; PRIMORDIAL DWARFISM; MITOMYCIN-C; PATIENT; EXPRESSION; SIBLINGS; FAILURE; LOCUS;
D O I：
10.4183/aeb.2010.361
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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)
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收藏
页码：361 / 369
页数：9
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