Neu-Laxova syndrome
Prenatal
diagnosis of Neu-Laxova syndrome: a case report. Sagittal section of the fetal trunk. Note the hypoplastic thorax (thin arrows) and abdomen (thick arrows).
Prenatal
diagnosis of Neu-Laxova syndrome: a case report. Flexion contractures of the lower limb (arrow: knee).
Prenatal
diagnosis of Neu-Laxova syndrome: a case report. X-ray film of the newborn.
Prenatal
diagnosis of Neu-Laxova syndrome: a case report. Excessive soft tissue deposition in the foot.
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:
- 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
- generalized edema - fetal anasarca
- abnormal facial features
- severe proptosis with ectropion
- microphthalmia
- 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, 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.
Siehe auch:
- Hypertelorismus
- Lungenhypoplasie
- Mikrognathie
- Exophthalmus
- Mikrozephalie
- Lissenzephalie
- Mikrophthalmus
- Intrauterine Wachstumsretardierung
- fetal anasarca
und weiter:
Assoziationen und Differentialdiagnosen zu Neu-Laxova-Syndrom:
