Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.
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Clinical presentation
The clinical spectrum can be quite wide and includes:
- dermal / cutaneous
- severe skin restriction
- ichthyosis
- decreased fetal movement
- marked intrauterine growth restriction (IUGR)
- short neck
- central nervous system (CNS) anomalies
- limb deformities
- pulmonary hypoplasia
- generalised oedema - fetal anasarca
- abnormal facial features
- severe proptosis with ectropion
- microphthalmia 5
- hypertelorism
- micrognathia
- nasal anomalies
- flattened nose
- otic anomalies
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, oedematous fetus could prompt consideration 1 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.