Neu-Laxova syndrome
Updates to Article Attributes
Body
was changed:
Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.
Clinical features
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 featuresÂ
- 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.
Prognosis
The prognosis is very poor with most fetuses undergoing intrauterine death and the remainder not surviving the early neonatal period.
-<p><strong>Neu-Laxova syndrome (NLS)</strong> is a lethal, autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.</p><h4>Clinical features</h4><p>The clinical spectrum can be quite wide and includes:</p><ul>- +<p><strong>Neu-Laxova syndrome</strong> is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.</p><h4>Clinical features</h4><p>The clinical spectrum can be quite wide and includes:</p><ul>
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