Lethal Nanism standard Greenberg

The lethal nanism standard Greenberg is a rare Nanisme in connection with an anomaly of the synthesis of the Cholestérol.

Other designations

Dysplasie HEM
Dysplasie de Greenberg

Etiology

Mutation of the Gène LBR located on the Locus q42.1 of the 1 coding the receiver of rolls B which is a sterol delta (14) réductase. This defect involves a reduction in the activity of 3-beta-hydroxysterol delta (14) - réductase

Description

The majority of the demonstrations begin In utero with a Hydramnios with fetal Hydrops. Often the fetus dies in utero .
The echography confirms an important reduction of the size of the various segments of membre
The face shows a depression of the nose, a hypoplasy of the face and orbital arcs marked. Other anomalies are sometimes found: Omphalocèle, Polydactyly.
Radiography shows an aspect of the long bone like “eaten by the mites”, of the aberrant points of ossification and the Vertèbre S plates.
The histological aspect of the bone shows an osseous structure completely désorganisée.
As the mothers of these fetuses have anomalies of Pelger-Huet, this anomaly would be the form hétérozygote deficit in 3-beta-hydroxysterol delta (14) - réductase.

Transmission

recessive autosomic Transmission

Sources

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 215140

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