...Karina Krajden Haratz; Zvi Leibovitz; Ran Svirsky; Carolina Leite Drummond; Dorit Lev; Liat Gindes; Tally Lerman-Sagie; Gustavo Malinger Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail...

...A.P. Athanasiadis; M. Zafrakas; P. Polychronou; L. Florentin-Arar; P. Papasozomenou; G. Norbury; J.N. Bontis Apert syndrome is a rare congenital malformation syndrome characterized by the triad of cutaneous and progressive bony syndactyly, midfacial hypoplasia and craniosynostosis. Two missense...

..., hepatosplenomegaly as well as an abnormal skull shape due to lamboid craniosynostosis. Conclusions: To our knowledge this is the first case report of increased nuchal translucency and craniosynostosis associated with SGB syndrome. A mutation in the glypican-3 gene was found in both the proband and the mother, who...

...Wendy F. Hansen; Asha Rijhsinghani; Stanley Grant; Jerome Yankowitz Objective: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. Method: We present the antenatal...