Neu Laxova syndrome

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The Neu-Laxová syndrome (also: Neu-Syndrom, Neu-Povysilová-Syndrom; abbreviated NLS; Engl. Neu-Laxová syndrome ) is an absolutely lethal congenital malformation syndrome , characterized by an impaired growth of the fetus and a number of physical deformities.

Phenotype

A large number of congenital malformations are part of the clinical picture of this rare disease, including:

etiology

The causes of the syndrome are not fully understood. The karyotype of all cases examined was normal. An autosomal recessive inheritance was found , because in many cases the parents of the affected child were closely related.

diagnosis

The diagnosis of the disease is possible as part of prenatal diagnosis by means of an ultrasound examination and is recommended if it has occurred in the family before.

The following differential diagnoses can be considered:

However, an edema of the subcutis is characteristic of Neu-Laxova syndrome, which does not occur in the other diseases mentioned.

forecast

The prognosis can only be described as poor : Children with this syndrome either die in the womb or shortly after birth. The longest survival time described in the literature is 134 days.

history

The syndrome was first described in 1971 by a team led by the US geneticist Richard L. Neu. A year later, the Czech-American geneticist Renáta Laxová described three more cases. In 1976 a team of Czech geneticists led by Viera Povysilová described a few more cases. In 1979 G. Lajzuk was the first to describe the disease under the name Neu-Laxová syndrome. The terms Neu Syndrome become synonymous . and Neu-Povysilová syndrome. used. To date, around 40 cases of this disease have been described in medical literature.

literature

  • Halil Aslan, Ahmet Gul, Ibrahim Polat, Cihan Mutaf, Mehmet Agar, Yavuz Ceylan: Prenatal diagnosis of Neu-Laxova syndrome: a case report. In: BMC Pregnancy and Childbirth. 2 (2002), vol. 1. doi: 10.1186 / 1471-2393-2-1
  • M. Ugras, G. Kocak, H. Ozcan: Neu-Laxova syndrome: a case report and review of the literature. In: J Eur Acad Dermatol Venereol. 20 (2006), vol. 9, pp. 1126-1128.

Web links

Individual evidence

  1. ↑ K. Broderick, R. Oyer, A. Chatwani: Neu-Laxova syndrome: a case report. In: Am J Obstet Gynecol. 158, 1988, vol. 3, Issue 1, pp. 574-575.
  2. ^ A b M. CS Naveed, CS Manjunath, S. Vijaya: New manifestations of Neu-Laxova syndrome. In: Am J Med Genet. 35 (1990), vol. 1, pp. 55-59.
  3. ↑ N. Fitch, L. Resch, L. Rochon: The Neu-Laxova syndrome: comments on syndrome identification. In: Am J Med Genet. 13: 445-452 (1982).
  4. ^ A b c H. Aslan, A. Gul, I. Polat, C. Mutaf, M. Agar, Y. Ceylan: Prenatal diagnosis of Neu-Laxova syndrome: a case report. In: BMC Pregnancy and Childbirth . 2 (2002), vol. 1. [1]
  5. ↑ F. Kuseyri, I. Bilge, L. Bilgiç, MY Apak: New Laxova syndrome: report of a case from Turkey. In: Clin Genet. 43 (1993), vol 5, pp. 267-269.
  6. ^ N. Abdel Meguid, SA Temtamy: Neu Laxova syndrome in two Egyptian families. In: Am J Med Genet. 41 (1991), vol 1, pp. 30-31.
  7. ↑ LM Muller, G. de Jong, SCE Mouton, MJ Greeff, P. Kirby, R. Hewlett, HF Jordaan: A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. In: Am J Med Genet. 26: 421-429 (1987).
  8. ^ I. Shapiro, Z. Borochowitz, S. Degani, H. Dar, I. Ibschitz, M. Sharf: Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. In: Am J Med Genet. 43: 602-605 (1993).
  9. ↑ Kenneth Lyons Jones, David W Smith: Smith's Recognizable Patterns Of Human Malformation. 5th edition. Saunders, Philadelphia 2005, ISBN 0-7216-0615-6 , pp. 180-182.
  10. ↑ T. Hirota, Y. Hirota, C. Asagami, M. Muto: A Japanese case of Neu-Laxova syndrome. In: The Journal of Dermatology (1998), Vol. 25, pp. 163-166.
  11. ^ RL Neu, T. Kajii, LI Gardner, SF Nagyfy, S. King: A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. In: Pediatrics. 47: 610-612 (1971).
  12. ↑ R. Laxova, PT Ohdra, YES Timothy: A Further Example of a lethal autosomal recessive condition in sibs. In: Journal of Mental Deficiency Research (Oxford). 16, pp. 139-143 (1972).
  13. ↑ V. Povysilová, M. Macek, J. Salichová, E. Seemanová: Letální syndrome mnohocetnych malformaci u tri sourozencu. In: Československá Pediatrie (Prague). 31, pp. 190-194 (1976).
  14. ↑ GI Lazjuk, IW Lurie, TI Ostrovskaya, ED Cherstvoy, IA Kirillova, MK Nedzved, SS Usoev: The New Laxova syndrome -a distinct entity. In: Am J Med Genet. 3 (1979) pp. 261-267.
  15. ↑ JA King, V. Gaedner, H. Chen et al: Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature. In: Pediatr Pathol Lab Med. 15 (1995), p. 57.
  16. ↑ L. Rouzbahani: New manifestations in an infant with Neu-Laxova syndrome. [letter]. In: Am J Med Genet. 56 (1995), p. 239.