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[Neu-Laxova syndrome: Three case reports and a review of the literature].
Darouich S, Boujelbene N, Kehila M, Chanoufi MB, Reziga H, Gaigi S, Masmoudi A. Darouich S, et al. Ann Pathol. 2016 Aug;36(4):235-44. doi: 10.1016/j.annpat.2016.04.004. Epub 2016 Jul 27. Ann Pathol. 2016. PMID: 27475004 Review. French.
INTRODUCTION: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. ...
INTRODUCTION: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. ...
Serine biosynthesis and transport defects.
El-Hattab AW. El-Hattab AW. Mol Genet Metab. 2016 Jul;118(3):153-159. doi: 10.1016/j.ymgme.2016.04.010. Epub 2016 Apr 22. Mol Genet Metab. 2016. PMID: 27161889 Review.
Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu-Laxova syndrome, a lethal multiple congenital anomaly disease, intermediately, infantile serine biosynthesis defects with severe neurological manifestatio …
Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu-Laxova syndrome …
Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature.
King JA, Gardner V, Chen H, Blackburn W. King JA, et al. Pediatr Pathol Lab Med. 1995 Jan-Feb;15(1):57-79. doi: 10.3109/15513819509026940. Pediatr Pathol Lab Med. 1995. PMID: 8736598 Review.
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectatic lungs, limb deformities, edema, polyhydramnios, …
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation …
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE. Manning MA, et al. Am J Med Genet A. 2004 Mar 15;125A(3):240-9. doi: 10.1002/ajmg.a.20467. Am J Med Genet A. 2004. PMID: 14994231 Review.
Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. ...
Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting …
Neu-Laxova syndrome: report of a case and comments.
Karimi-Nejad MH, Khajavi H, Gharavi MJ, Karimi-Nejad R. Karimi-Nejad MH, et al. Am J Med Genet. 1987 Sep;28(1):17-23. doi: 10.1002/ajmg.1320280104. Am J Med Genet. 1987. PMID: 3314507 Review.
We report on an infant with Neu-Laxova syndrome [Neu et al, 1971; Laxova et al, 1972; Povysilova et al, 1976; Lazjuk et al, 1979; Scott et al, 1981; Fitch et al, 1982; Mueller et al, 1983; Turkel et al, 1983; Paes et al, 1985], and emphasize the ichthyotic sk …
We report on an infant with Neu-Laxova syndrome [Neu et al, 1971; Laxova et al, 1972; Povysilova et al, 1976; Lazjuk et …
Amino acid synthesis deficiencies.
de Koning TJ. de Koning TJ. J Inherit Metab Dis. 2017 Jul;40(4):609-620. doi: 10.1007/s10545-017-0063-1. Epub 2017 Jun 26. J Inherit Metab Dis. 2017. PMID: 28653176 Free PMC article. Review.
[Neu-Laxova syndrome].
Oho Y, Okuyama T. Oho Y, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):21-2. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057129 Review. Japanese. No abstract available.
[Neu-Laxova syndrome].
Kondoh T, Matsumoto T. Kondoh T, et al. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):283-4. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528742 Review. Japanese. No abstract available.
Cerebral abnormalities in the Neu-Laxova syndrome.
Ostrovskaya TI, Lazjuk GI. Ostrovskaya TI, et al. Am J Med Genet. 1988 Jul;30(3):747-56. doi: 10.1002/ajmg.1320300308. Am J Med Genet. 1988. PMID: 3055985 Review.
Cerebral abnormalities are considered an obligatory manifestation of the Neu-Laxova syndrome and include lissencephaly, severe microcephaly, aplasia of the corpus callosum, hypoplasia of the cerebellum, and other pathological changes. ...
Cerebral abnormalities are considered an obligatory manifestation of the Neu-Laxova syndrome and include lissencephaly, …
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.
Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatçi U. Derbent M, et al. Am J Med Genet A. 2004 Jul 30;128A(3):232-4. doi: 10.1002/ajmg.a.30109. Am J Med Genet A. 2004. PMID: 15216542 Review.
The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; …
The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephal …
12 results