Prenatal dolichocephaly: Sign of trouble? –A variant of Miller–Dieker syndrome

Abstract

Neuroimaging and molecular cytogenetics were used to ascertain the cause of disability in a case. The case was diagnosed to be a variant of Miller–Dieker syndrome (MDS). Retrospective analysis showed a prenatal scan reporting dolichocephaly. We evaluated dolichocephaly, the name associated with a nonsynostotic cause to be a physiological variant having no prognostic value, to that of a similar synostotic or secondary to a neurological disorder cause, with prognostic significance. The report confirmed early craniosynostosis in cases suspected with a neurological disorder and also on an important criterion in molecular testing strategy in cases suspected with MDS.

Keywords :

• craniosynostosis
• dolichocephaly
• fluorescence in situ hybridization
• Miller–Dieker syndrome
• neurological disorders
• prenatal scan