Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Background Greenberg skeletal dysplasia is a very rare, autosomalrecessive, in utero, lethal chondrodystrophy for which only eight indexcases of diverse ethnic origin have been reported so far. The defect isassociated with a defect in cholesterol biosynthesis and due tomutations in the gene encoding the lamin B receptor (LBR).Methods A familial case of three fetuses of a consanguineous Greekcouple is presented including prenatal, physical, radiographic,histopathologic, and molecular genetic findings.Results The tentative diagnosis of Greenberg skeletal dysplasia basedon pathological findings was confirmed by the identification of ahomozygous, N547D amino acid substitution in the LBR gene in the thirdaffected fetus.Conclusion The present case represents the ninth described case ofGreenberg dysplasia and the second case of Greek origin. Thecharacteristic `moth-eaten' radiographic appearance is already seen at13 weeks' gestational age. Copyright (C) 2008 John Wiley & Sons, Ltd.
Abortion, Eugenic, Adult, Bone Diseases, Developmental/complications, Bone Diseases, Developmental/genetics, Consanguinity, DNA Mutational Analysis, Female, Humans, Hydrops Fetalis/genetics, Hydrops Fetalis/pathology, Male, Ossification, Heterotopic/complications, Ossification, Heterotopic/genetics, Pregnancy, Pregnancy Trimester, First, Receptors, Cytoplasmic and Nuclear/genetics, Ultrasonography, Prenatal
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