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Items: 1 to 20 of 96

1.

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns WB, Zackai EH.

Prenat Diagn. 2013 Oct;33(10):1010-2. doi: 10.1002/pd.4178. Epub 2013 Jul 23. No abstract available.

2.

Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.

Segal D, Heary RF, Sabharwal S, Barry MT, Ming X.

J Neurosurg Pediatr. 2016 Jul;18(1):79-82. doi: 10.3171/2016.1.PEDS15482. Epub 2016 Apr 1.

PMID:
27035547
3.

Sonographic detection of hydrolethalus syndrome.

Siffring PA, Forrest TS, Frick MP.

J Clin Ultrasound. 1991 Jan;19(1):43-7. No abstract available.

PMID:
1846379
4.

Congenital cervical fibrosacroma with hydrops fetalis.

Lam PM, Leung TN, Ng PC, Vlantis AC, Wong W, Lau TK.

Acta Obstet Gynecol Scand. 2004 Aug;83(8):773-6. No abstract available.

PMID:
15255853
5.

A CASE OF MACROCEPHALY-CAPILLARY MALFORMATION SYNDROME PRESENTING WITH HOT WATER EPILEPSY.

Yilmaz S, Tekin H, Kitis O, Serdaroglu G, Tekgul H, Gokben S.

Genet Couns. 2015;26(3):333-7. No abstract available.

PMID:
26625665
6.

[Hydrops and common atrioventricular canal in a fetus of karyotype 47(XY)+21. Ultrasonic diagnosis at twenty weeks].

Cervadoro O, Papini A, Cosentino P.

Minerva Ginecol. 1990 Sep;42(9):365-7. Italian.

PMID:
2149429
7.
8.

Macrocephaly-cutis marmorata telangiectatica congenita syndrome--prenatal signs in ultrasonography.

Nyberg RH, Uotila J, Kirkinen P, Rosendahl H.

Prenat Diagn. 2005 Feb;25(2):129-32.

PMID:
15712320
9.

Intrauterine idiopathic severe ductal constriction diagnosed by fetal echocardiography: a cause of hydrops fetalis.

Babaoğlu K, Çakıroğlu Y, Altun G, Doğer E, Oğuz D.

Anadolu Kardiyol Derg. 2013 Aug;13(5):496-7. doi: 10.5152/akd.2013.150. Epub 2013 May 27. No abstract available.

10.
11.

Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity.

Horn LC, Faber R, Meiner A, Piskazeck U, Spranger J.

Prenat Diagn. 2000 Dec;20(12):1008-11. Review. Erratum in: Prenat Diagn 2001 May;21(5):425.

PMID:
11113916
12.

Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases.

Tongsong T, Chanprapaph P, Khunamornpong S, Sirichotiyakul S.

J Clin Ultrasound. 2005 Mar-Apr;33(3):149-53.

PMID:
15756659
13.

Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis.

Suwanrath-Kengpol C, Limprasert P, Mitarnun W.

Prenat Diagn. 2004 Nov;24(11):887-9.

PMID:
15565585
14.

[Changes in fetal karyotype in non-immune hydrops fetalis].

de Rosa G, Catalano D, Dell'Isola A.

Minerva Ginecol. 1997 Dec;49(12):535-9. Italian.

PMID:
9557479
15.

Fetal critical aortic stenosis with natural improvement of hydrops fetalis due to spontaneous relief of severe restrictive atrial communication.

Ide T, Miyoshi T, Kitano M, Kurosaki K, Yoshimatsu J.

J Obstet Gynaecol Res. 2015 Jul;41(7):1137-40. doi: 10.1111/jog.12681. Epub 2015 Mar 15.

PMID:
25772579
16.

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

McDermott JH, Byers H, Clayton-Smith J.

Clin Dysmorphol. 2016 Jan;25(1):16-8. doi: 10.1097/MCD.0000000000000099.

PMID:
26351730
17.

Clinical Features of Neonates with Hydrops Fetalis.

An X, Wang J, Zhuang X, Dai J, Lu C, Li X, Yan Y.

Am J Perinatol. 2015 Nov;32(13):1231-9. doi: 10.1055/s-0035-1552934. Epub 2015 Jun 12.

PMID:
26070120
18.

Antenatal presentation of hereditary lymphedema type I.

Boudon E, Levy Y, Abossolo T, Cartault F, Brouillard P, Vikkula M, Kieffer-Traversier M, Ramful D, Alessandri JL.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):329-31. doi: 10.1016/j.ejmg.2015.03.006. Epub 2015 Apr 18.

PMID:
25896638
19.

Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis.

Sung PL, Cheng EE, Chen YJ, Chern SR, Shih CY, Chang CM, Wang PH, Yen MS, Huang CY, Chen CP.

Taiwan J Obstet Gynecol. 2013 Dec;52(4):602-6. doi: 10.1016/j.tjog.2013.10.030. No abstract available.

20.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S.

Eur J Hum Genet. 2015 Mar;23(3):409-12. doi: 10.1038/ejhg.2014.118. Epub 2014 Jun 18.

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