Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
An offspring of consanguineous parents of East-Indian origin was found prenatally to have hydrops fetalis, short limb dwarfism, polydactyly and chondro-osseous changes consistent with Greenberg hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) dysplasia. The radiological changes include platyspondyly with multiple extra ossification centers, extraneous calcification in the ribs, sternum, pelvis, and epiphysis, and moth-eaten long bones. The histopathological changes included chondrocytes with dilated rough endoplasmic reticulum and inclusion bodies with homogeneous material of intermediate electron density. These findings further delineate the spectrum of this rare autosomal recessive skeletal dysplasia.
Chitayat
D
D
Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Gruber
H
H
Mullen
B J
BJ
Pauzner
D
D
Costa
T
T
Lachman
R
R
Rimoin
D L
DL
D000015:Abnormalities, Multiple / Q000235:genetics; D001842:Bone and Bones / Q000648:ultrastructure; D002356:Cartilage / Q000648:ultrastructure; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005804:Genes, Lethal; D005808:Genes, Recessive; D006132:Growth Plate / Q000473:pathology / Q000648:ultrastructure; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging / Q000235:genetics; D018191:Lymphangioma, Cystic / Q000235:genetics; D008297:Male; D008855:Microscopy, Electron, Scanning; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal