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. CONCLUSION: 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. Copyright (c) 2008 John Wiley & Sons, Ltd.
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. CONCLUSION: 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. Copyright (c) 2008 John Wiley & Sons, Ltd.
Authors: Massimiliano Rossi; Christine M Hall; Raymonde Bouvier; Sophie Collardeau-Frachon; Frédérique Le Breton; Martine Bucourt; Marie Pierre Cordier; Christine Vianey-Saban; Giancarlo Parenti; Generoso Andria; Martine Le Merrer; Patrick Edery; Amaka C Offiah Journal: Pediatr Radiol Date: 2015-02-03
Authors: Tatiana V Cohen; Kimberly D Klarmann; Krisada Sakchaisri; Jason P Cooper; Douglas Kuhns; Miriam Anver; Peter F Johnson; Simon C Williams; Jonathan R Keller; Colin L Stewart Journal: Hum Mol Genet Date: 2008-07-11 Impact factor: 6.150