Windswept deformity in a patient with Schwartz-Jampel syndrome

被引：4

作者：

Al Kaissi, Ali ^{[1
,2
,3
]}

Ganger, Rudolf ^{[3
]}

Klaushofer, Klaus ^{[1
,2
]}

Grill, Franz ^{[3
]}

机构：

[1] Hanusch Hosp WGKK, Ludwig Boltzmann Inst Osteol, AT-1140 Vienna, Austria

[2] Hanusch Hosp, AUVA Trauma Ctr Meidling, Dept Med 1, AT-1140 Vienna, Austria

[3] Orthopaed Hosp Speising, Dept Paediat, Vienna, Austria

来源：

SWISS MEDICAL WEEKLY | 2012年 / 142卷

关键词：

Schwartz-Jampel syndrome; windswept leg deformity; orthopaedic management; STUVE-WIEDEMANN-SYNDROME; TAYLOR-SPATIAL FRAME; SYNDROME TYPE-2; TIBIA VARA; PERLECAN; CHILDREN;

D O I：

10.4414/smw.2012.13519

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 13-year-old boy presented with the overall phenotypic and genotypic characterisation of Schwarz-Jampel syndrome (SJS). Windswept deformity was a major orthopaedic abnormality. Prompt diagnostic measures were applied to this patient associated with several orthopaedic procedures to move closer to acceptable appearance and function.

引用

页数：10

共 50 条

[41] EARLY MANIFESTATION OF SCHWARTZ-JAMPEL SYNDROME IN A NEWBORN
HUNZIKER, U
BOLTSHAUSER, E
SCHINZEL, A
GIEDION, A
FANCONI, S
HELVETICA PAEDIATRICA ACTA, 1986, 41 (03) : 257 - 257
[42] Schwartz-Jampel Syndrome Mimicking Myotonia Congenita
Padmanabha, Hansashree
Mathew, Thomas
Manjusha, T.
NEUROLOGY INDIA, 2019, 67 (04) : 1160 - +
[43] Levator aponeurosis surgery in Schwartz-Jampel syndrome
Cruz, AAV
Souza, CA
Plastino, LS
OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY, 1998, 14 (04): : 271 - 276
[44] Peripheral regional anaesthesia in an adult with Schwartz-Jampel syndrome
Gruber, B. U.
Kohler, A.
Bomberg, H.
Laber, R.
Eichenberger, U.
ANAESTHESIA REPORTS, 2024, 12 (01)
[45] SCHWARTZ-JAMPEL SYNDROME WITH AUTOSOMAL-DOMINANT INHERITANCE
FERRANNINI, E
PERNIOLA, T
KRAJEWSKA, G
SERLENGA, L
TRIZIO, M
EUROPEAN NEUROLOGY, 1982, 21 (03) : 137 - 146
[46] Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome
Ding, Jingwen
Xu, Yan
Yuan, Bowei
Li, Dongmei
JOURNAL OF AAPOS, 2021, 25 (01): : 54 - 56
[47] CONTINUOUS MUSCLE FIBER ACTIVITY IN SCHWARTZ-JAMPEL SYNDROME
TAYLOR, RG
DAVIS, HS
LAYZER, RB
FOWLER, WM
ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY, 1972, 33 (05): : 497 - +
[48] Schwartz-Jampel syndrome: a review of the literature and case report
Mallineni, Sreekanth
Yiu, Cynthia
King, Nigel
SPECIAL CARE IN DENTISTRY, 2012, 32 (03) : 105 - 111
[49] Schwartz-Jampel syndrome: Three pediatric case reports
Yapicioglu, B
Satar, M
Yildizdas, D
Narli, N
Suleymanova, D
Tutak, E
GENETIC COUNSELING, 2003, 14 (03): : 353 - 358
[50] SCHWARTZ-JAMPEL SYNDROME - POSITIVE THERAPEUTIC EFFECT OF DIACARB
AVERYANOV, YN
ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA, 1978, 78 (10): : 1498 - 1502

← 1 2 3 4 5 →