Disease #00050 (hydrops fetalis (hydrops fetalis))

Official abbreviation hydrops fetalis
Name hydrops fetalis
OMIM ID -
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 8
Associated with 1 gene ANGPT2
Associated tissues -
Disease features -
Remarks -
Date created 2012-08-30 17:43:12 +02:00 (CEST)
Date last edited 2022-12-29 09:13:22 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00428276 FamPatIII4 PubMed: Smeland 2023 3-generation family, 14affected, fetuses (F, 3M) unaffected heterozygous carrier parents/relatives M yes Norway Asia-C <00y00m00d - - - hydrops fetalis pregnancy severe, progressive hydrops, 24w-intrauterine fetal death; ultrasound 11w-normal, 19w+5 last menstrual period, 17w-screening hydrothorax, ascites, subcutaneous fluid; postmortem examination tetralogy of Fallot, 2w discrepancy estimated due date from last menstrual period and ultrasound, no observed increase in number of lymphatic vessels, hydropic placenta, thick (3cm), oedematous, weight 360g - ANGPT2 2 4 Johan den Dunnen
00428277 FamPatIII5 PubMed: Smeland 2023 fetus F yes Norway Asia-C <00y00m00d - - - hydrops fetalis pregnancy severe, progressive hydrops, 27w-intrauterine fetal death; ultrasound 12w+3-nuchal translucency 5.0, cystic hygroma subcutaneous fluid, 16w-hydrothorax, subcutaneous fluid, cystic hygroma, 26w-ascites; postmortem examination no cardiac abnormalities; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs); no observed increase in number of lymphatic vessels; hydropic placenta, thick (2.9cm), weight 440g, abnormal vascular architecture/proliferation vessels - ANGPT2 2 1 Johan den Dunnen
00428278 FamPatIII7 PubMed: Smeland 2023 fetus M yes Norway Asia-C <00y00m00d - - - hydrops fetalis 14w-termination of pregnancy; pregnancy early detected severe hydrops; ultrasound 12w+4-cystic hygroma, subcutaneous fluid, 14w+4 cystic hygroma and hydrothorax - ANGPT2 2 1 Johan den Dunnen
00428279 FamPatIII8 PubMed: Smeland 2023 fetus M yes Norway Asia-C <00y00m00d - - - hydrops fetalis 14w-spontaneous abortion; pregnancy early detected severe hydrops; ultrasound 11w+0 nuchal translucency 3.7, generalised subcutaneous fluid, cystic hygroma, 12w+1 nuchal translucency 6-7 mm - ANGPT2 2 1 Johan den Dunnen
00454652 F1.1 Landry-Voyer et al. 2024 - submitted 2-generation family, 3 affected, unaffected heterozygous carrier parents F - - - - - - - hydrops fetalis fetal demise at 19 weeks of gestation with findings of thick nuchal translucency - PDCD2 1 3 Tess Holling
00454653 F1.2 Landry-Voyer et al. 2024 - submitted - - - - - - - - - hydrops fetalis - - PDCD2 1 1 Tess Holling
00454654 F1.5 Landry-Voyer et al. 2024 - submitted - - - - - - - - - hydrops fetalis cystic hygroma and NIHF, termination of pregnancy by 15 5/7 weeks - PDCD2 1 1 Tess Holling
00454655 F2.1 Landry-Voyer et al. 2024 submitted - M - - - - - - - hydrops fetalis pregnancy was terminated by 16 weeks because if NIHF - PDCD2 2 1 Tess Holling
00464522 F2.4 Landry-Voyer et al. - 2024 submitted - F no - - - - - - hydrops fetalis pregnancy was terminated by 13 weeks because of NIHF PDCD2 PDCD2 2 1 Tess Holling
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