title: Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.
abstract: We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.
authors.affiliation: Department of First Medical, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital, Vienna, Austria ; Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.affiliation: Department of Imaging, Center of Radiology, Studies-Ibn Zohr Institute, Tunis, Khadra, Tunisia.
authors.forename: Farid Ben
authors.initials: FB
authors.lastname: Chehida
authors.affiliation: Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
authors.affiliation: Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
keywords: Computed tomography scan; Grebe dysplasia; long and short bones deficiency; neonatal death dwarfism