NDLI: Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.

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Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	de Wit, Marie Claire Y. de Coo, Irenaeus F. M. Schot, Rachel Hoogeboom, A. Jeannette M. Lequin, Maarten H. Verkerk, Annemieke J. M. H. Mancini, Grazia M. S.
Description	Country affiliation: Netherlands Author Affiliation: de Wit MC ( Department of Neurology, Erasmus MC Rotterdam, The Netherlands.)
Abstract	Malformations of cerebral cortical development, in particular periventricular nodular heterotopia (PNH), and distal transverse limb deficiency have been reported as associated congenital anomalies. Patients with PNH and transverse limb deficiency can be classified as having amniotic band sequence or Adams-Oliver syndrome (AOS). Controversy exists whether these should be considered separate entities. In some AOS patients, autosomal recessive inheritance has been shown, but in most patients causes are unknown, and both environmental and genetic factors have been implicated. We present three patients with PNH and distal transverse limb deficiency to support the hypothesis that these should be considered part of one group of disorders, and highlight the variable severity of the clinical and neuroradiological phenotype. Chromosome abnormalities were excluded by copy number analysis on 250K SNP microarray data.Research done on limb deficiency as on PNH caused by mutations in known genes, suggests the involvement of vascular developmental pathways. The combination of limb deficiency and PNH may have a common causative mechanism. Recognition and grouping of patients with this combination of abnormalities will help elucidating the cause.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Limb Deformities, Congenital Complications Periventricular Nodular Heterotopia Adult Child Child, Preschool Facies Female Humans Infant, Newborn Magnetic Resonance Imaging Male Pregnancy Radiography Recurrence Young Adult Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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