Clinical and molecular diagnosis of osteocraniostenosis in fetuses and newborns: prenatal ultrasound, clinical, radiological and pathological features

HIGHLIGHTS

• who: Simonetta Rosato et al. from the Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland have published the paper: Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features, in the Journal: Genes 2022, 13, 261. of /2022/
• what: The authors report two new cases of OCS including one with detailed pathological examination.

SUMMARY

Published maps and institutional affil- A lethal disorder characterized by thin, fragile long bones and craniofacial dysmorphism was initially reported by Kozlowski and Kan in 1988 and Maroteaux . . .

 



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