Report of two Turkish infants with Norman-Roberts syndrome.

Abstract

Lissencephaly or agyria refers to a rare disorder that is characterized by the absence of cerebral convolutions and a poorly formed sylvian fissure, giving the appearance of a 3-4 months old fetal brain. At present more than 25 dysmorphology syndromes with lissencephaly or other disorders of neuronal migration have been described. In 1976, Norman et al. reported on two patients with lissencephaly type I and short, sloping forehead, an atypical phenotype for Miller-Dieker syndrome, a more common lissencephaly syndrome. In this article, we report two Turkish female infants whose abnormal findings were consistent with Norman-Roberts syndrome because of their very rare presentation. Both patients had typical cranio-facial abnormalities and abnormal magnetic resonance imaging findings, but no deletion in 17p13.3 for Miller-Dieker syndrome. In addition to the typical findings of Norman-Roberts syndrome, case 1 had atrial septal defect, corpus callosum agenesis, intracranial widespread calcification and case 2 had bilateral macular cherry-red spot, persistent foramen ovale, increased blood level of C6 hexanoylcarnitine, cavum septum pellucidum vergae anomaly and cerebellar atrophy. In conclusion, we would like to emphasize that Norman-Roberts syndrome should also be considered in infants with lissencephaly. A detailed physical examination, chromosomal and fluorescence in situ hybridization (FISH) analysis to exclude a deletion in 17p13.3 should be performed for the definite diagnosis of the syndrome.

• Authors: H Caksen, O Tuncer, E Kirimi, J P Fryns, A Uner, O Unal, A Cinal, D Odabaş
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 15 Issue 1 Pg. 9-17 ( 2004) ISSN: 1015-8146 [Print] Switzerland
• PMID: 15083694 (Publication Type: Case Reports, Journal Article)

Chemical References

• Microtubule-Associated Proteins
• hexanoylcarnitine
• 1-Alkyl-2-acetylglycerophosphocholine Esterase
• PAFAH1B1 protein, human
• Carnitine

Topics

• 1-Alkyl-2-acetylglycerophosphocholine Esterase
• Atrophy (pathology)
• Brain (abnormalities)
• Carnitine (analogs & derivatives, blood)
• Cell Movement (physiology)
• Cerebellum (pathology)
• Female
• Heart Septal Defects, Atrial (diagnosis)
• Humans
• In Situ Hybridization, Fluorescence (methods)
• Infant
• Magnetic Resonance Imaging
• Microtubule-Associated Proteins (genetics)
• Neurons (physiology)
• Phenotype
• Syndrome
• Twins (genetics)