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:
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dermal / cutaneous
severe skin restriction
decreased fetal movement
short neck
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central nervous system (CNS) anomalies
limb deformities
generalized edema - fetal anasarca
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abnormal facial features
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nasal anomalies
flattened nose
otic anomalies
Radiographic features
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 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.
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