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Results: 1 to 20 of 144

1.

A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".

Caglayan AO, Gumus H, Yikilmaz A, Gumus GO, Per H.

Genet Couns. 2009;20(4):359-65.

PMID:
20162871
[PubMed - indexed for MEDLINE]
2.

Lethal femoral-facial syndrome: a case with unusual manifestations.

Gillerot Y, Fourneau C, Willems T, Van Maldergem L.

J Med Genet. 1997 Jun;34(6):518-9.

PMID:
9192278
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

[Femoral hypoplasia--unusual facies syndrome].

Trabelsi M, Monastiri K, Hammami A, Touzi C, Ben Hariz M, Gharbi HA, Bennaceur B.

Ann Pediatr (Paris). 1989 Dec;36(10):693-6. French.

PMID:
2624385
[PubMed - indexed for MEDLINE]
4.

Dandy-Walker malformation: prenatal diagnosis and prognosis.

Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F.

Childs Nerv Syst. 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16.

PMID:
12879343
[PubMed - indexed for MEDLINE]
5.

Additional malformations in femoral hypoplasia: unusual facies syndrome.

Verma A, Jain N, Jain K.

Indian J Pediatr. 2002 Jun;69(6):531-2.

PMID:
12139143
[PubMed - indexed for MEDLINE]
6.

Femoral hypoplasia--unusual facies syndrome: prenatal ultrasonographic observations.

Tadmor OP, Hammerman C, Rabinowitz R, Fisher D, Itzchaki M, Aboulafia Y, Diamant YZ.

Fetal Diagn Ther. 1993 Jul-Aug;8(4):279-84.

PMID:
7903145
[PubMed - indexed for MEDLINE]
7.

Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.

Johnson JP, Carey JC, Gooch WM 3rd, Petersen J, Beattie JF.

J Pediatr. 1983 Jun;102(6):866-72.

PMID:
6854450
[PubMed - indexed for MEDLINE]
8.

Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magnetic resonance imaging follow-up.

Sartori S, Ludwig K, Fortuna M, Marzocchi C, Calderone M, Toldo I, Salviati L, Laverda AM, Tenconi R.

J Child Neurol. 2010 Nov;25(11):1419-22. doi: 10.1177/0883073810370477. Epub 2010 Sep 7.

PMID:
20823032
[PubMed - indexed for MEDLINE]
9.

Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus.

Paladini D, Maruotti GM, Sglavo G, Penner I, Leone F, D'Armiento MR, Martinelli P.

Ultrasound Obstet Gynecol. 2007 Sep;30(3):354-8. Review.

PMID:
17668891
[PubMed - indexed for MEDLINE]
Free Article
10.

The femoral hypoplasia-unusual facies syndrome: a genetic entity?

Lord J, Beighton P.

Clin Genet. 1981 Oct;20(4):267-75.

PMID:
7333019
[PubMed - indexed for MEDLINE]
11.

Femoral hypoplasia and maternal diabetes: consider femoral hypoplasia/unusual facies syndrome.

Hinson RM, Miller RC, Macri CJ.

Am J Perinatol. 1996 Oct;13(7):433-6.

PMID:
8960613
[PubMed - indexed for MEDLINE]
12.

Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

Sabry MA, Obenbergerova D, Al-Sawan R, Saleh QA, Farah S, Al-Awadi SA, Farag TI.

J Med Genet. 1996 Feb;33(2):165-7. Review.

PMID:
8929957
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The face of Joubert syndrome: a study of dysmorphology and anthropometry.

Braddock SR, Henley KM, Maria BL.

Am J Med Genet A. 2007 Dec 15;143A(24):3235-42.

PMID:
18000967
[PubMed - indexed for MEDLINE]
14.

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB.

Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117.

PMID:
14981712
[PubMed - indexed for MEDLINE]
15.

Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.

Dodge NN, Dobyns WB.

Am J Med Genet. 1995 Mar 27;56(2):147-50.

PMID:
7625436
[PubMed - indexed for MEDLINE]
16.

Fryns syndrome survivors and neurologic outcome.

Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG.

Am J Med Genet. 1995 Nov 20;59(3):334-40. Review.

PMID:
8599357
[PubMed - indexed for MEDLINE]
17.

[Dandy-Walker complex with multiple anomalies: report of one case].

Young HS, Liu YJ, Lee BF, Chen W, Wu KW, Tsang KT.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1991 Mar-Apr;32(2):128-33. Chinese.

PMID:
2063687
[PubMed - indexed for MEDLINE]
18.

Neuropathological analysis of an asymptomatic adult case with Dandy-Walker variant.

Notaridis G, Ebbing K, Giannakopoulos P, Bouras C, Kövari E.

Neuropathol Appl Neurobiol. 2006 Jun;32(3):344-50.

PMID:
16640653
[PubMed - indexed for MEDLINE]
19.

Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.

Fluss J, Blaser S, Chitayat D, Akoury H, Glanc P, Skidmore M, Raybaud C.

J Child Neurol. 2006 Apr;21(4):320-4.

PMID:
16900929
[PubMed - indexed for MEDLINE]
20.

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.

Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E.

J Child Neurol. 1999 Jun;14(6):368-76.

PMID:
10385844
[PubMed - indexed for MEDLINE]

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