Neu-Laxova syndrome

Last revised by Hamish Smith on 17 Oct 2018

Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.

The clinical spectrum can be quite wide and includes:

May show a combination of any of the clinical features to varying degrees.

The combination of marked ocular proptosis in a growth restricted, oedematous fetus could prompt consideration 1 although individual features nonspecific.

The prognosis is very poor with most fetuses undergoing intrauterine death and the remainder not surviving the early neonatal period.

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