Abstract
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis. Skin histology showed hyperkeratosis, edema and increased subcutaneous fat suggestive of ichthyosis. On the basis of gross and microscopic features seen, a diagnosis of Neu-Laxova syndrome was made.
Highlights
The Neu-Laxova syndrome (NLS) is a rare disorder with only 70 cases of this syndrome reported so far [1]
Autosomal recessive condition associated with complex neuro-ectodermal abnormalities and other different patterns of severe malformations
NLS is a rare genetic disorder that is inherited as an autosomal recessive trait
Summary
The Neu-Laxova syndrome (NLS) is a rare disorder with only 70 cases of this syndrome reported so far [1]. NLS was first reported by Richard Neu in 1971 and Renata Laxova in 1972. It is a lethal, autosomal recessive condition associated with complex neuro-ectodermal abnormalities and other different patterns of severe malformations. The majority of the babies are either stillborn or die in the early neonatal period [2]. Typical features of this syndrome include skin changes, limb abnormalities, excessive subcutaneous edema, brain malformations and an unusual association with kyphosis
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