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Items: 1 to 20 of 101

1.

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A.

Genet Couns. 2013;24(3):307-12. Review.

PMID:
24341146
2.

Fryns "Anophthalmia-Plus" syndrome associated with developmental regression.

Wiltshire E, Moore M, Casey T, Smith G, Smith S, Thompson E.

Clin Dysmorphol. 2003 Jan;12(1):41-3.

PMID:
12514364
3.

Fryns anophthalmia-plus syndrome: two rare cases.

Bozkurt O, Bidev D, Sari FN, Dizdar EA, Ulu HO, Uras N, Oguz SS, Canpolat FE, Dilmen U.

Genet Couns. 2014;25(4):395-8.

PMID:
25804017
4.

Anophthalmia-plus syndrome: a clinical report and review of the literature.

Makhoul IR, Soudack M, Kochavi O, Guilburd JN, Maimon S, Gershoni-Baruch R.

Am J Med Genet A. 2007 Jan 1;143A(1):64-8. Review.

PMID:
17152069
5.

A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.

Akalin I, Senses DA, Ilgin-Ruhi H, Misirlioğlu E, Yalçiner M, Cetinkaya E, Fryns JP, Tükün A.

Genet Couns. 2005;16(2):145-8.

PMID:
16080293
6.

Fryns anophthalmia-plus syndrome in an 18-week-old fetus.

Jayasinghe C, Gembruch U, Kuchelmeister K, Körber F, Müller AM.

Pediatr Dev Pathol. 2012 Jan-Feb;15(1):58-61. doi: 10.2350/10-07-0880-CR.1. Epub 2011 Jun 15.

PMID:
21675878
7.

Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?

Ozçelik D, Sağlam I, SIlan F, Sezen G, Unveren T.

Cleft Palate Craniofac J. 2008 May;45(3):256-60. doi: 10.1597/06-249. Epub 2007 May 16.

PMID:
18452356
8.

Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.

Buntincx IM, Van Overmeire B, Desager K, Van Hauwaert J.

J Med Genet. 1993 May;30(5):427-8. Review.

9.

Apparently new "anophthalmia-plus" syndrome in sibs.

Fryns JP, Legius E, Moerman P, Vandenberghe K, Van den Berghe H.

Am J Med Genet. 1995 Aug 28;58(2):113-4.

PMID:
8533799
10.

Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

Schweitzer DN, Yano S, Earl DL, Graham JM Jr.

Am J Med Genet A. 2003 Jul 30;120A(3):400-5.

PMID:
12838563
11.

Symptomatic Chiari I malformation in Kabuki syndrome.

Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE.

Am J Med Genet A. 2005 Jan 30;132A(3):273-5.

PMID:
15523623
12.

Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.

Warburg M, Jensen H, Prause JU, Bolund S, Skovby F, Miranda MJ.

Am J Med Genet. 1997 Nov 28;73(1):36-40.

PMID:
9375920
13.

Cryptophthalmos with an orbital cyst and profound mental and motor retardation.

Butler MG, Eisen JD, Henry J.

J Pediatr Ophthalmol Strabismus. 1978 Jul-Aug;15(4):233-5.

PMID:
739357
14.

[Goldenhar syndrome: a polymalformation syndrome with conductive hearing loss].

Santa Cruz Ruiz S, Aguirre García F, Pérez Plasencia D, Blanco Pérez P, Guillén Guerrero V, Del Cañizo Alvarez A.

An Otorrinolaringol Ibero Am. 2000;27(2):161-7. Spanish.

PMID:
10829494
15.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Bergmann C, Spranger S, Javaher P, Ptok M.

Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. Review.

PMID:
20182757
16.

Newborn with anophthalmia and features of Fryns syndrome.

Pierson DM, Subtil A, Taboada E, Butler MG.

Pediatr Dev Pathol. 2002 Nov-Dec;5(6):592-6. Epub 2002 Oct 14.

PMID:
12375132
17.

Chiari I malformation: association with seizures and developmental disabilities.

Brill CB, Gutierrez J, Mishkin MM.

J Child Neurol. 1997 Feb;12(2):101-6.

PMID:
9075019
18.

Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature.

Castiglione A, Guaran V, Astolfi L, Orioli E, Zeri G, Gemmati D, Bovo R, Montaldi A, Alghisi A, Martini A.

Cytogenet Genome Res. 2013;141(4):243-59. doi: 10.1159/000353846. Epub 2013 Aug 7. Review.

19.

Documentation of anomalies not previously described in Fryns syndrome.

Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E.

Am J Med Genet A. 2003 Jan 15;116A(2):179-82; discussion 183.

PMID:
12494439
20.

Association of Chiari I malformation and Williams syndrome.

Pober BR, Filiano JJ.

Pediatr Neurol. 1995 Jan;12(1):84-8.

PMID:
7748369
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