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2018, Volume 34, Number 3, Page(s) 259-261
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DOI: 10.5146/tjpath.2015.01353 |
Neu-Laxova Syndrome: An Unusual Association with Kyphosis |
Amandeep KAUR1, Vijayalaxmi SURANAGİ1, Kamal PATİL2, Hema BANNUR1 |
1Department of Pathology, KLE University, Belgaum, Karnataka, India
2Department of Obstetrics and Gynaecology, KLE University, Belgaum, Karnataka, India |
Keywords:
Neu-Laxova syndrome, Lissencephaly, Kyphosis, PHGDH mutation |
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.
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