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)
引用
收藏
页码：361 / 369
页数：9
相关论文
共 50 条
  • [1] Early severe intrauterine growth restriction associated with Seckel syndrome
    Welp, T
    Reiss, I
    Mielke, G
    Baumann, P
    Gembruch, U
    PRENATAL AND NEONATAL MEDICINE, 2000, 5 (06): : 383 - 386
  • [2] Seckel Syndrome with Severe Sinus Bradycardia
    Ramasamy, Chandramohan
    Satheesh, Santhosh
    Selvaraj, Raja
    INDIAN JOURNAL OF PEDIATRICS, 2015, 82 (03): : 292 - 293
  • [3] Seckel Syndrome with Severe Sinus Bradycardia
    Chandramohan Ramasamy
    Santhosh Satheesh
    Raja Selvaraj
    The Indian Journal of Pediatrics, 2015, 82 : 292 - 293
  • [4] Seckel syndrome:: a case report
    Ortega, MA
    Infante-Velázquez, EJ
    del Campo, YHP
    REVISTA DE NEUROLOGIA, 2002, 35 (01) : 99 - 100
  • [5] CASE OF EXTREME DWARFISM STARTING WITHIN UTERUS PROBABLY OF SECKEL TYPE
    BRIZARD, J
    MIMOUNI, M
    SENEZE, J
    THOYERRO.J
    SEMAINE DES HOPITAUX, 1973, 49 (35-3): : 655 - 660
  • [6] Seckel Syndrome and Vasculopathy: A Case Report
    Inaloo, Soroor
    Khorshidi, Soorena
    Jalli, Reza
    Haghbin, Saeedeh
    JOURNAL OF PEDIATRIC NEUROLOGY, 2016, 14 (03) : 122 - 125
  • [7] NEUROPATHOLOGY OF SECKEL SYNDROME IN FETAL STAGE WITH EVIDENCE OF INTRAUTERINE DEVELOPMENTAL RETARDATION
    HORI, A
    TAMAGAWA, K
    EBER, SW
    WESTMEIER, M
    HANSMANN, I
    ACTA NEUROPATHOLOGICA, 1987, 74 (04) : 397 - 401
  • [8] A CASE OF SECKEL SYNDROME WITH TETRALOGY OF FALLOT
    Can, E.
    Bulbul, A.
    Uslu, S.
    Demirin, H.
    Comert, S.
    Bolat, F.
    Nuhoglu, A.
    GENETIC COUNSELING, 2010, 21 (01): : 49 - 51
  • [9] A CASE OF SECKEL SYNDROME WITH TRICUSPID ATRESIA
    Arslan, D.
    Cimen, D.
    Guvenc, O.
    Sert, A.
    Oktay, A.
    Oran, B.
    GENETIC COUNSELING, 2014, 25 (02): : 171 - 175
  • [10] HETEROGENEITY OF SECKEL SYNDROME - CONSIDERATIONS ON A CASE
    TOUDIC, L
    MAROTEAUX, P
    CASTEL, Y
    GOUEDARD, H
    PARENT, P
    ANNALES DE PEDIATRIE, 1983, 30 (09): : 700 - 704
12345