Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome.
A girl, born after in vitro fertilisation to a 39-year-old primi-para, had congenital craniofacial synostosis, gyrated skin and ventriculomegaly together with other minor anomalies. This is the sixth patient with the Beare-Stevenson syndrome. The disorder is discussed together with other congenital overgrowth syndromes.
Bratanic
B
B
University Paediatric Hospital, Neonatal Department, Ljubljana, Slovenia.
Praprotnik
M
M
Novosel-Sever
M
M
D003394:Craniofacial Dysostosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012871:Skin Diseases / Q000151:congenital*; D013577:Syndrome