Placental mesenchymal dysplasia HP:0032165

[patt1morgan]

*HPO term** Placental mesenchymal dysplasia HP:0032165

Suggested revision of textual definition Placental mesenchymal dysplasia is a rare placental lesion characterized by stem villous cystic dilation and vesicle formation, placentomegaly, and vascular abnormalities. PMID: 17227114

**Comment - Placental mesenchymal dysplasia is an unusual abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. PMID: 17227114

**Diseases associated with - Maternal complications - preeclampsia, gestational hypertension, HELLP syndrome. Fetal complications - growth restriction, fetal death, placental triploidy mosaicism, CHARGE syndrome, fetal pleuropulmonary blastoma, fetal skeletal dysplasia, Beckwith-Wiedemann, hematologic disorders, liver tumors PMID :3073717, PMID:3167083

[patt1morgan]

@jokemuys, @saintfrison -Good day! We are all slowly trickling back from well needed vacation breaks, hoping to dive back into our prenatal project! If you could review, and comment on the above term, it would be greatly appreciated. Thank you in advance for your cooperation and help.

[saintfrison]

PMD is a rare disorder characterized by placentomegaly , dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells. In approximately 20% of PMD cases, the fetus exhibits Beckcwith-Wiedemann Syndrome.

[pnrobinson]

updated definition, thanks!

[saintfrison]

Hello,

I have just received your email but I haven't yet fully understood how our "collaboration" works (despite the Workshop, sorry !...). Could you tell me in a few lines what you expect from me concerning the item "mesenchymal dysplasia". So that I can help you in the most efficient way possible.

Regards,

Dr. Marie-Hélène SAINT-FRISON

Docteur Marie-Hélène SAINT-FRISON, PH Département de GENETIQUE UF de fœtopathologie Hôpital Robert Debré, 48 Bd Sérurier 75019 Paris Tél bureau: +33(0)1 40 03 23 38 Tél secrétariat : +33(0)1 40 03 57 21 Fax: +33(0)1 40 03 53 19 email : @.**@.>

De : Peter Robinson @. Envoyé : vendredi 15 octobre 2021 16:04 À : obophenotype/human-phenotype-ontology @.> Cc : SAINT FRISON Marie Helene @.>; Mention @.> Objet : Re: [obophenotype/human-phenotype-ontology] Placental mesenchymal dysplasia HP:0032165 (#7051)

Closed #7051https://github.com/obophenotype/human-phenotype-ontology/issues/7051.

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[pnrobinson]

@saintfrison Thanks! We are mainly looking for help in creating new terms to cover all relevant placental anomalies. We will be having a workshop next Wednesday (but at an Asian/Australian-friendly time of 5PM EST (23h in W. Europe) that you be be welcome to attend. Future meetings will have Europe-friendly times. I would suggest to attend one of the future meetings and we will be concretely working on terms and explaining the process in detail.