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

نویسندگان
Sadeghnia, Alireza ID 1
Rouhani, Elham ID 2
Soofi, Ghazaleh Jamalipoor ID 3
Barekatain, Behzad ID 4

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

4 Department of Neonatology, Isfahan University of Medical Sciences, Isfahan, Iran

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چکیده

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.

کلیدواژه‌ها
Ichthyosis, microcephalia, Neu–Laxova syndrome