Article
Extending the phenotype of lethal skeletal dysplasia type al Gazali.
American journal of medical genetics. Part A - 1 Jun 2011
Grigelioniene Giedre, Papadogiannakis Nikos, Conner Peter, Geiberger Stefan, Nishikawa Masanori, Nakayama Masahiro
Abstract excerpt
In this study, we describe the clinical and radiological phenotype of two patients with a rare skeletal dysplasia type al Gazali. The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with brachydactyly. Further characteristics are severe fetal hydrops, radiologic signs of increased bone density and short, poorly...
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