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CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 1  |  Page : 68

A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia


1 Department of Neonatology, Isfahan University of Medical Sciences, Isfahan, Iran
2 Department of Pathology, Isfahan University of Medical Sciences, Isfahan, Iran
3 Department of Radiology, Isfahan University of Medical Sciences, Isfahan, Iran

Correspondence Address:
Dr. Behzad Barekatain
Department of Pediatrics, Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/abr.abr_143_17

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Neu–Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic features, anomalies of limb and genitalia, intrauterine growth retardation, skin disorders, and other congenital abnormalities. In this article, we present a newborn infant who was born with facial dysmorphic features, flat nose, ichthyosis, rocker bottom feet, and fixed flexion contractures. We believe that these clinical findings in this patient are consistent with features of NLS.


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