Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
BACKGROUND
Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported so far. The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (LBR).


METHODS
A familial case of three fetuses of a consanguineous Greek couple is presented including prenatal, physical, radiographic, histopathologic, and molecular genetic findings.


RESULTS
The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus.


CONCLUSIONS
The present case represents the ninth described case of Greenberg dysplasia and the second case of Greek origin. The characteristic 'moth-eaten' radiographic appearance is already seen at 13 weeks' gestational age.
Konstantinidou
Anastasia
A
Department of Pathology, National University of Athens, Greece.
Karadimas
Charalampos
C
Waterham
Hans R
HR
Superti-Furga
Andrea
A
Kaminopetros
Petros
P
Grigoriadou
Maria
M
Kokotas
Haris
H
Agrogiannis
George
G
Giannoulia-Karantana
Aglaia
A
Patsouris
Efstratios
E
Petersen
Michael B
MB
D000025:Abortion, Eugenic; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D008297:Male; D009999:Ossification, Heterotopic / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D016216:Ultrasonography, Prenatal; D000097682:Lamin B Receptor
D018160:Receptors, Cytoplasmic and Nuclear; D000097682:Lamin B Receptor