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PubMed · 17223397

Posterior helical pits.

Trine E Prescott·Raoul C M Hennekam
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Abstract

Posterior helical pits are an easily overlooked finding. They are uncommon in the general population although they do occur as an isolated autosomal dominant trait. We have observed posterior helical pits as a feature in three syndromes only: Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome and Rubinstein-Taybi syndrome. We suggest that posterior helical pits, when present, are an excellent diagnostic handle.

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Beckwith-Wiedemann SyndromeEar, ExternalGenes, DominantHumansRubinstein-Taybi SyndromeJournal Article

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BibTeXRIS

Trine E Prescott, Raoul C M Hennekam. 2006-11-30. Posterior helical pits.. https://doi.org/10.1016/j.ejmg.2006.11.003

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Placental mesenchymal dysplasia.

CONTEXT: Placental mesenchymal dysplasia is characterized by placentomegaly and may be mistaken for molar pregnancy both clinically and macroscopically because of the presence of "grapelike vesicles." It may be associated with a completely normal fetus, a fetus with growth restriction, or a fetus with features of Beckwith-Wiedemann syndrome. OBJECTIVE: To review the etiology, molecular pathology, gross and microscopic features, clinical presentation, complications, and differential diagnosis of placental mesenchymal dysplasia. DATA SOURCES: The PubMed and the Medline databases were systematically searched for articles between 1970 and 2006. The following keywords were used: placental mesenchymal dysplasia, mesenchymal hyperplasia, molar pregnancy, pseudomolar pregnancy, Beckwith-Wiedemann syndrome, and placentomegaly. Relevant references from review articles were also searched. CONCLUSIONS: Placental mesenchymal dysplasia should be considered in the differential diagnosis when the ultrasonographic findings show a cystic placenta. Close attention should be paid to fetal morphology for early recognition of fetal complications and to prevent unnecessary termination of pregnancy in cases associated with a normal fetus.

Beckwith-Wiedemann Syndrome↗