Norman Roberts Syndrome

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Classification according to ICD-10
Q04.3 Other reducing deformities of the brain - lissencephaly
ICD-10 online (WHO version 2019)

The Norman-Roberts syndrome , ( Lissencephaly 2 or Lissencephaly syndrome type Norman-Roberts ), is a very rare congenital malformation syndrome with lissencephaly combined with other malformations and facial abnormalities.

The name refers to the first authors of the first description from 1976 by Margaret Grace Norman, M. Roberts and others.

The disease should not be confused with Roberts syndrome , a phocomelia .

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

Of the disease are in some patients mutations in RELN - gene on chromosome 7 locus Q22.1 basis which for Reelin coded.

The same locus is affected in the familial form of temporal lobe epilepsy.

Clinical manifestations

Clinical criteria are:

literature

  • B. Tosello, V. Brévaut-Malaty, K. Chaumoître, C. Gire: A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. In: Fetal and pediatric pathology. Vol. 34, No. 3, June 2015, pp. 197-201, doi: 10.3109 / 15513815.2015.1031414 , PMID 25927602 .
  • F. Natacci, MF Bedeschi, A. Righini, F. Inverardi, T. Rizzuti, C. Boschetto, F. Triulzi, R. Spreafico, C. Frassoni, F. Lalatta: Norman-Roberts syndrome: characterization of the phenotype in early fetal life. In: Prenatal Diagnosis . Vol. 27, No. 6, June 2007, pp. 568-572, doi: 10.1002 / pd.1728 , PMID 17367103 .

Individual evidence

  1. ↑ a b c Lissencephaly syndrome, Norman-Roberts type. In: Orphanet (Rare Disease Database).
  2. ^ MG Norman, M. Roberts, J. Sirois, LJ Tremblay: Lissencephaly. In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. Vol. 3, No. 1, February 1976, pp. 39-46, PMID 175907 .
  3. ↑ Lissencephaly 2 (Norman-Roberts type).  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Epilepsy, familial temporal lobe, 7th  In: Online Mendelian Inheritance in Man . (English)

Web links