Neu-Laxova syndrome

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

Clinical presentation

The clinical spectrum can be quite wide and includes:

Radiographic features

Antenatal ultrasound

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

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

Treatment and prognosis

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

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