Hydrops-ectopic calcification—moth-eaten skeletal dysplasia (Greenberg dysplasia): Prenatal diagnosis and further delineation of a rare genetic disorder

✍ Scribed by Chitayat, David ;Gruber, Helen ;Mullen, Brendan J. ;Pauzner, David ;Costa, Teresa ;Lachman, Ralph ;Rimoin, David L.

• Book ID: 102703130
• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 804 KB
• Volume: 47
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320470226

✦ Synopsis

An offspring of consanguineous parents of East-Indian origin was found prenatally to have hydrops short limb dwarfism, polydactyly and chondro~osseous changes with Greenberg hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) dysplasia. The radiological changes include platyspondyly with multiple extra os- sification 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. o 1993 Wiley-Liss, Inc.

CLINICAL REPORT

Fetal ultrasonography (US) done on a 24-year-old G2P1 woman at 17 weeks of gestation showed a fetus with short limb dwarfism, hexadactyly of both hands, hydrops fetalis, and cystic hygroma (Fig. 1). There was no blood group incompatibility and complete hemo-KEY WORDS fetal, skeletal dysplasia, lethal, inherited, polydactyly, cystic hygroma, autosomal recessive