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Articles » Syndromes » Neu Laxova syndrome
2009-01-26-13 Neu Laxova syndrome © Qurban
Neu Laxova syndrome

Aasia Qurban, MD.



Case report

The following images show a case of the Neu Laxova syndrome that was seen in our department. Prenatally we found several abnormalities: intrauterine growth restricted fetus with a backward sloping forehead; severe micrognathia; rocker bottom feet and fixed club hands; spine angulation; vermian agenesis and ventriculomegaly; large ears; nuchal fold and skin thickness were increased; two vessel cord; and polyhydramnios. After delivery we found a cataract of one eye and scaly skin lesions. Penis was curved, scrotum with testes were sort of embedded in the perineum, possibly due to the edema of soft tissues.

Parents were a young newly married couple and this was their first child. 

Images 1, 2: The image 1 shows a 3D rendering of a edematous (puffed) fetal hand. The image 2 represents 2D scans of the edematous fetal feet.


Images 3, 4: The image 3 show angulated fetal spine. The image 4 show two-vessel umbilical cord of the fetus.


Images 5, 6: The image 5 compares the transverse scans of the fetal thorax and abdomen with apparently smaller thoracic size and relative cardiomegaly. The image 6 represents transverse scans of the fetal head - the vermian agenesis (arrow) and dilatation of the lateral ventricles (asterisk) were observed.


Images 7, 8, 9, and 10: The images represent several scans of the fetal head. Note the sloping forehead, flattened nose, micrognathia (images 9, 10), and slightly protruding eyes with hypertelorism (images 7, 8).



Images 11, 12, 13, 14, and 15: Postnatal appearance of the newborn. Note the sloping forehead, ocular hypertelorism, slightly protruding eyes with absent lids, flattened nose, thick everted lips, micrognathia, large ears, short neck, edematous skin, and short limbs with puffiness of the hands and feet.




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