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Items: 1 to 20 of 119

1.

Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects.

Cetinkaya M, Ozkan H, Köksal N, Yazici Z, Yalçinkaya U.

Clin Dysmorphol. 2008 Apr;17(2):151-4. doi: 10.1097/MCD.0b013e3282f2699c. No abstract available.

PMID:
18388793
2.

Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.

Swietliński J, Swist-Szulik K, Maruniak-Chudek I, Pyrkosz A.

Genet Couns. 2002;13(3):309-17.

PMID:
12416639
3.

Spondylocostal dysostosis with perinatal death and meningomyelocele.

Rodriguez MM, Mejias A Jr, Haun RL, Mata MB, Bruce JH.

Pediatr Pathol. 1994 Jan-Feb;14(1):53-9.

PMID:
8159620
4.

Neural tube defects in Jarcho-Levin syndrome: study of twenty-eight cases.

Alatas I, Canaz H, Akkoyun N, Er A, Demirhan O, Kizilay D, Emel E.

Pediatr Neurosurg. 2015;50(2):57-62. doi: 10.1159/000380770. Epub 2015 Mar 17.

PMID:
25792257
5.

Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.

Lam YH, Eik-Nes SH, Tang MH, Lee CP, Nicholls JM.

Ultrasound Obstet Gynecol. 1999 Mar;13(3):213-5.

6.

Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.

Day R, Fryer A.

Clin Dysmorphol. 2003 Oct;12(4):277-8.

PMID:
14564219
7.

Jarcho-Levin syndrome: four new cases and classification of subtypes.

Karnes PS, Day D, Berry SA, Pierpont ME.

Am J Med Genet. 1991 Sep 1;40(3):264-70. Review.

PMID:
1951427
8.

Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm.

Nagasawa H, Koyama T, Sasai H, Kohno Y, Yamamoto Y, Kondo M, Sugawara M, Terazawa D, Miura R.

Congenit Anom (Kyoto). 2014 Aug;54(3):189-92. doi: 10.1111/cga.12052.

PMID:
24666313
9.

Spine and rib abnormalities and stature in spondylocostal dysostosis.

Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S.

Spine (Phila Pa 1976). 2006 Apr 1;31(7):E192-7.

PMID:
16582839
10.

Diaphragmatic hernia in an infant of a diabetic mother: an unusual association in diabetic embryopathy.

Higuchi R, Minami T, Shimoyamada Y, Kamisako H, Koike M, Takigawa H, Kakudo K.

Pediatr Int. 1999 Oct;41(5):581-3. No abstract available.

PMID:
10530078
11.

Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.

Teli M, Hosalkar H, Gill I, Noordeen H.

Spine (Phila Pa 1976). 2004 Jul 1;29(13):1447-51. Review.

PMID:
15223937
12.

Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous couple.

Delozier-Blanchet CD, Lespinasse J, Brundler MA, Extermann P.

J Med Genet. 2001 Apr;38(4):269-71. No abstract available.

13.

Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.

Singh A, Pilli GS, Bannur H.

Fetal Pediatr Pathol. 2016;35(3):192-8. doi: 10.3109/15513815.2016.1155681. Epub 2016 Apr 11.

PMID:
27064748
14.

Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls.

Martinez Santos JL, Dmytriw AA, Fermin S.

BMJ Case Rep. 2015 Jul 21;2015. pii: bcr2015210240. doi: 10.1136/bcr-2015-210240. No abstract available.

PMID:
26199296
15.

[Pycnodysostosis: observations on a rare case].

Schiavone Panni A, Fabbriciani C.

Arch Putti Chir Organi Mov. 1984;34:403-9. Italian. No abstract available.

PMID:
6544102
16.

Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome).

Becerra-Solano LE, Chacon L, Morales-Mata D, Ramírez-Dueñas Mde L, García-Ortiz JE.

Clin Dysmorphol. 2015 Jan;24(1):1-6. doi: 10.1097/MCD.0000000000000058.

PMID:
25304117
17.

Chest-wall reconstruction in spondylocostal dysostosis: rare use of a latissimus dorsi flap.

Hosalkar H, Thatte MR, Yagnik MG.

Plast Reconstr Surg. 2002 Aug;110(2):537-40. No abstract available.

PMID:
12142673
18.

Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases.

Yurttutan S, Değirmencioğlu H, Oncel MY, Kara S, Sari F, Dilmen U.

Genet Couns. 2013;24(4):361-6.

PMID:
24551977
19.

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).

Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA.

Pediatr Radiol. 2011 Mar;41(3):384-8. doi: 10.1007/s00247-010-1928-8. Epub 2010 Dec 22.

PMID:
21174082
20.

Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.

Martínez-Frías ML, Bermejo E, Paisán L, Martín M, Egüés J, López JA, Martínez S, Orbea C, Cucalón F, Gairi JM, et al.

Am J Med Genet. 1994 Jul 1;51(3):203-12.

PMID:
8074145

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