E' una displasia scheletrica rara caratterizzata da arti corti, idrope fetale. E' trasmessa con carattere autosomico recessivo ed รจ legata ad alterazione del gene LBR.
I segni principali sono la micromelia marcata, l'idrope fetale e ossificazioni ectopiche.
E' letale in utero.
La diagnosi ecografica prenatale si basa sulla presenza di:
micromelia severa
idrope fetale
polidramnios
igroma cistico.
Bibliografia
Chitayat, D., Gruber,
H., Mullen, B. J., Pauzner, D., Costa, T., Lachman, R., Rimoin, D. L.
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg
dysplasia): prenatal diagnosis and further delineation of a rare genetic
disorder. Am. J. Med. Genet. 47: 272-277, 1993. Clayton, P., Fischer, B., Mann, A., Mansour, S., Rossier,
E., Veen, M., Lang, C., Baasanjav, S., Kieslich, M., Brossuleit, K., Gravemann,
S., Schnipper, N., and 9 others. Mutations causing Greenberg dysplasia but not
Pelger anomaly uncouple enzymatic from structural functions of a nuclear
membrane protein. Nucleus 1: 354-366, 2010. Greenberg, C. R., Rimoin, D. L., Gruber, H. E., DeSa, D. J.
B., Reed, M., Lachman, R. S. A new autosomal recessive lethal chondrodystrophy
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J. Greenberg dysplasia: first reported case with additional non-skeletal
malformations and without consanguinity. Prenatal Diag. 20: 1008-1011, 2000.
Note: Erratum: Prenat. Diag. 21: 425 only, 2001. Konstantinidou, A., Karadimas, C., Waterham, H. R.,
Superti-Furga, A., Kaminopetros, P., Grigoriadou, M., Kokotas, H., Agrogiannis,
G., Giannoulia-Karantana, A., Patsouris, E., Petersen, M. B. Pathologic,
radiographic and molecular findings in three fetuses diagnosed with
HEM/Greenberg skeletal dysplasia. Prenatal Diag. 28: 309-312, 2008. Oosterwijk, J. C., Mansour, S., van Noort, G., Waterham, H.
R., Hall, C. M., Hennekam, R. C. M. Congenital abnormalities reported in
Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable
expression of allelic phenotypes. J. Med. Genet. 40: 937-941, 2003. Wassif, C. A., Brownson, K. E., Sterner, A. L., Forlino, A.,
Zerfas, P. M., Wilson, W. K., Starost, M. F., Porter, F. D. HEM dysplasia and
ichthyosis are likely laminopathies and not due to 3-beta-hydroxysterol
delta-14-reductase deficiency. Hum. Molec. Genet. 16: 1176-1187, 2007. Waterham, H. R., Koster, J., Mooyer, P., van Noort, G.,
Kelley, R. I., Wilcox, W. R., Wanders, R. J. A., Hennekam, R. C. M.,
Oosterwijk, J. C. Autosomal recessive HEM/Greenberg skeletal dysplasia is
caused by 3-beta-hydroxysterol delta(14)-reductase deficiency due to mutations
in the lamin B receptor gene. Am. J. Hum. Genet. 72: 1013-1017, 2003.