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

Document Type : CASE REPORT


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


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.


Neu RL, Kajii T, Gardner LI, Nagyfy SF. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 1971;47:610-2.  Back to cited text no. 1
Laxova R, Ohara PT, Timothy JA. A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res 1972;16:139-43.  Back to cited text no. 2
Lazjuk GI, Lurie IW, Ostrowskaja TI, Cherstvoy ED, Kirillova IA, Nedzved MK, et al. The Neu-Laxova syndrome – A distinct entity. Am J Med Genet A 1979;3:261-7.  Back to cited text no. 3
Ozcan D, Derbent M, Seçkin D, Bikmaz YE, Aǧildere M, De Sandre-Giovannoli A, et al. Acollodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: A mild form of neu-laxova syndrome or a new entity? Ann Dermatol 2013;25:483-8.  Back to cited text no. 4
Chen H. Atlas of genetic diagnosis and counseling: Humana press Totowa NJ; 2006.  Back to cited text no. 5
Chen H. Atlas of Genetic Diagnosis and Counseling. Totowa, NJ: Humana Press; 2006.  Back to cited text no. 6
Durr-e-Sabih, Khan AN, Sabih Z. Prenatal sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound 2001;29:531-4.  Back to cited text no. 7
Jones KL, Jones MC, Del Campo M. Smith's Recognizable Patterns of Human Malformation E-Book: Elsevier Health Sciences; 2013.  Back to cited text no. 8
Curry CJ. Further comments on the Neu-Laxova syndrome. Am J Med Genet A 1982;13:441-4.  Back to cited text no. 9
Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, et al. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet 2014;94:898-904.  Back to cited text no. 10
Mattos EP, Silva AA, Magalhães JA, Leite JC, Leistner-Segal S, Gus-Kessler R, et al. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Am J Med Genet A 2015;167:1323-9.  Back to cited text no. 11
Shapiro I, Borochowitz Z, Degani S, Dar H, Ibschitz I, Sharf M. Neu-Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. Am J Med Genet A 1992;43:602-5.  Back to cited text no. 12
Horn D, Müller D, Thiele H, Kunze J. Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: A new syndrome or mild form of Neu-Laxova syndrome? Clin Dysmorphol 1997;6:323-8