Jarcho-Levin综合征1例报道并文献复习
刘家明;余可谊;沈建雄;
摘要(Abstract):
<正>Jarcho-Levin综合征是一种以椎体和肋骨先天发育异常为特征的遗传性疾病。该病最早由Jarcho和Levin于1938年报道,是一种罕见的先天性疾病,外观上主要表现为颈短、躯干短、身材矮小、后发际低,同时可合并全身多器官发育异常。国内目前尚未见文献报道。我院于2010年8月收治1例此病患者,并接受脊柱矫形手术治疗,效果满意。为提高对此病的认识,现结合文献复习报告如下。
关键词(KeyWords):
基金项目(Foundation):
作者(Authors): 刘家明;余可谊;沈建雄;
参考文献(References):
- [1]Jarcho S,Levin P.Hereditary malformation of the vertebral bodies. Bull John Hopkins Hosp,1938,62:216-226.
- [2]Karnes PS,Day D,Berry SA,et al.Jarcho-Levin Syndrome:four new cases and classification of subtypes.Am J Med Genet,1991, 40(3):264-270.
- [3]Kulkarni ML,Navaz SR,Vani HN,et al.Jarcho-Levin Syndrome, Indian J Pedlatr,2006,73(3):245-247.
- [4]Martlnez-Frlas ML,Bermejo Sdnchez E,Martinez Santana S,et al. Jarcho-Levin and Casamassima syndromes:differential diagnosis and frequency in Spain,1998,48(5):510-514.
- [5]McCall CP,Hudgins L,CloutierM,et al.Jarcho-Levin syndrome: unusual survival in a classical case.Am J Med Genet,1994,49 (3):328-332.
- [6]Duru S,Ceylan S,Giivenc BH.Segmental costovertebral malformations: association with neural tube defects.Report of 3 cases and review of the literature.Pediatr Neurosurg,1999,30(5 ): 272-277.
- [7]Hull AD,James G,Pretorius DH.Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound.Prenat Diagn,2001,21(5):390- 394.
- [8]Solomon L,Jimenez RB,Reiner L.Spondylothoracic dysostosis:report of two cases and review of the literature.Arch Pathol Lab Med, 1978,102(4):201 -205.
- [9]Cornier AS,Ramirez N,Carlo S,et al.Controversies surrounding Jarcho-Levin syndrome.Curr Opin Pediatr,2003,15(6): 614-620.
- [10]Turnpenny PD,Bulman MP,Frayling TM,et al.A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet,1999,65(1):175-182.
- [11]Turnpenny PD,Whhtock N,Duncan J,et al.Novel mutations in DLL3,a somitogenesis gene encoding a ligand for the Notch signalling pathway,cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.J Med Genet,2003,40 (5):333-339.
- [12]Cornier AS,Staehling-Hampton K,Delventhal KM,et al.Mutations in the MESP2 gene cause spondylothoracic dysostosis/JarchoLevin syndrome.Am J Hum Genet,2008,82(6):1334-1341.
- [13]Bannykh SI,Emery SC,Gerber JK,et al.Aberrant Paxl and Pax9 expression in Jarcho-Levin syndrome:report of two Caucasian siblings and literature review.Am J Med Genet A,2003,120A (2):241 -246.
- [14]Cornier AS,Ramirez N,Arroyo S,et al.Phenotype characterization and natural history of spondylothoracic dysplasia syndrome:a series of 27 new cases.Am J Med Genet A,2004,128A(2): 120-126.
- [15]Hensinger RN,Lang JE,MacEwen GD.Klippel-Feil syndrome:a constellation of associated anomalies.J Bone Joint Surg Am,1974, 56:1246-1253.
- [16]Clarke RA,Singh S,McKenzie H,et al.Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).Am J Hum Genet,1995,57:1364-1370.
- [17]Copley LA,Dormans JP.Cervical spine disorders in infants and children.J Am Acad Orthop Surg,1998,6:204-214.
- [18]Hemlan MJ,Pizzutillo PD.Cervical spine disorders in children. Orthop Clin North Am,1999,30:57-466.
- [19]Feil A.L'absence et la diminuation des vertebres cervicales(etude cliniqueet pathogenique):le syndrome dereduction numerique cevicales. Theses de Paris,1919.
- [20]Kauffman E,Roman H,Barau G,et al.Case report:a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy.Prenat Diagn,2003,23(2):163-165.
- [21]Dane C,Yayla M,Dane B.Prenatal diagnosis of Jarcho-Levin syndrome in the first trimester.Gynecol Obstet Invest,2007,63 (4):200-202.
- [22]Sallout Bl,D'Agostini DA,Pretorius DH.Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography.J Ultrasound Med,2006,25(4):539-543.
- [23]Thompson GH,Akbamia BA,Campbell RM.Growing rod techniques in early-onset scoliosis.J Pediatr Orthop,2007,27(3): 354-361.
- [24]Zarzycki D,Tesiorowski M,Potaczek T,et al.Use of VEPTR (Vertebral Expandable Prosthetic Titanium Rib) device in the treatment of congenital spine and thorax deformities.Przegl Lek,2008, 65(7-8):329-331.
- [25]Campbell RM Jr,Smith MD,Mayes TC,et al.The effect of opening wedge thoracostomy on thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis.J Bone Joint Surg Am, 2004,86:1659-1674.
- [26]Shah SC,Birknes JK,Sagoo S,et al.Vertical expandable prosthetic titanium rib(VEPTR):indications,technique,and management review.Surg Technol Int,2009,18-223-229.