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PubMed · 10066116

Genetic craniofacial aberrations.

S Pirinen
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Abstract

Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate.

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Beckwith-Wiedemann SyndromeChromosome MappingCleft LipCleft PalateCleidocranial DysplasiaCraniofacial AbnormalitiesHumansMandibulofacial DysostosisMarfan SyndromeMolecular BiologyMutationTooth AbnormalitiesTurner SyndromeJournal ArticleReview

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S Pirinen. 1998. Genetic craniofacial aberrations.. https://doi.org/10.1080/000163598428310

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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↗