Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: Insights into malformations of the mid-hindbrain

Kimberly M. Macferran, Robert F. Buchmann, Raghu Ramakrishnaiah, May L. Griebel, Warren G. Sanger, Anirudh Saronwala, G. Bradley Schaefer

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome-although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found to be consistent with pontine tegmental cap dysplasia. Chromosomal microarray studies showed a 2q13 deletion. A gene associated with Joubert syndrome, NPHP1, is within this region. This case highlights several important aspects of the diagnosis and nosology of malformations of the mid-hind brain.

Original languageEnglish (US)
Pages (from-to)69-74
Number of pages6
JournalSeminars in Pediatric Neurology
Volume17
Issue number1
DOIs
StatePublished - Mar 1 2010

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Rhombencephalon
Brain
Genes
Magnetic Resonance Spectroscopy
Joubert syndrome 1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Macferran, K. M., Buchmann, R. F., Ramakrishnaiah, R., Griebel, M. L., Sanger, W. G., Saronwala, A., & Schaefer, G. B. (2010). Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: Insights into malformations of the mid-hindbrain. Seminars in Pediatric Neurology, 17(1), 69-74. https://doi.org/10.1016/j.spen.2010.02.014

Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene : Insights into malformations of the mid-hindbrain. / Macferran, Kimberly M.; Buchmann, Robert F.; Ramakrishnaiah, Raghu; Griebel, May L.; Sanger, Warren G.; Saronwala, Anirudh; Schaefer, G. Bradley.

In: Seminars in Pediatric Neurology, Vol. 17, No. 1, 01.03.2010, p. 69-74.

Research output: Contribution to journalArticle

Macferran, KM, Buchmann, RF, Ramakrishnaiah, R, Griebel, ML, Sanger, WG, Saronwala, A & Schaefer, GB 2010, 'Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: Insights into malformations of the mid-hindbrain', Seminars in Pediatric Neurology, vol. 17, no. 1, pp. 69-74. https://doi.org/10.1016/j.spen.2010.02.014
Macferran, Kimberly M. ; Buchmann, Robert F. ; Ramakrishnaiah, Raghu ; Griebel, May L. ; Sanger, Warren G. ; Saronwala, Anirudh ; Schaefer, G. Bradley. / Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene : Insights into malformations of the mid-hindbrain. In: Seminars in Pediatric Neurology. 2010 ; Vol. 17, No. 1. pp. 69-74.
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