Syntelencephaly in an infant of a diabetic mother

N. H. Robin, L. M. Ko, S. Heeger, K. L. Muise, Nancy E. Judge, B. A. Bangert

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric 'fusion' (MIF), or syntelencephaly. This is a rare anomaly characterized by segmental failure of cleavage of the cerebral hemispheres and other brain structures in the posterior frontal and parietal regions, with a normal interhemispheric fissure anterior and posterior to the 'fused' region. While there is obvious overlap with holoprosencephaly (HPE), this condition differs from HPE in that the midline 'fusion' in MIF is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior 'fusion.' However, while it is apparent that there are key distinctions between MIF and HPE, in all likelihood they arise from a similar pathogenetic mechanism. We therefore suggest that MIF is a distinct variant of the HPE spectrum of midline brain anomalies. Given the known increased incidence of HPE in IDMs, MIF is likely a maternal diabetes-associated malformation.

Original languageEnglish (US)
Pages (from-to)433-437
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume66
Issue number4
DOIs
StatePublished - 1996
Externally publishedYes

Fingerprint

Holoprosencephaly
Mothers
Brain
Parietal Lobe
Cerebrum
Incidence

Keywords

  • holoprosencephaly
  • infant of a diabetic mother
  • middle interhemispheric fusion
  • midline brain malformation
  • syntelencephaly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Syntelencephaly in an infant of a diabetic mother. / Robin, N. H.; Ko, L. M.; Heeger, S.; Muise, K. L.; Judge, Nancy E.; Bangert, B. A.

In: American Journal of Medical Genetics, Vol. 66, No. 4, 1996, p. 433-437.

Research output: Contribution to journalArticle

Robin, N. H. ; Ko, L. M. ; Heeger, S. ; Muise, K. L. ; Judge, Nancy E. ; Bangert, B. A. / Syntelencephaly in an infant of a diabetic mother. In: American Journal of Medical Genetics. 1996 ; Vol. 66, No. 4. pp. 433-437.
@article{c27d636ef18144828ce69deca2225756,
title = "Syntelencephaly in an infant of a diabetic mother",
abstract = "Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric 'fusion' (MIF), or syntelencephaly. This is a rare anomaly characterized by segmental failure of cleavage of the cerebral hemispheres and other brain structures in the posterior frontal and parietal regions, with a normal interhemispheric fissure anterior and posterior to the 'fused' region. While there is obvious overlap with holoprosencephaly (HPE), this condition differs from HPE in that the midline 'fusion' in MIF is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior 'fusion.' However, while it is apparent that there are key distinctions between MIF and HPE, in all likelihood they arise from a similar pathogenetic mechanism. We therefore suggest that MIF is a distinct variant of the HPE spectrum of midline brain anomalies. Given the known increased incidence of HPE in IDMs, MIF is likely a maternal diabetes-associated malformation.",
keywords = "holoprosencephaly, infant of a diabetic mother, middle interhemispheric fusion, midline brain malformation, syntelencephaly",
author = "Robin, {N. H.} and Ko, {L. M.} and S. Heeger and Muise, {K. L.} and Judge, {Nancy E.} and Bangert, {B. A.}",
year = "1996",
doi = "10.1002/(SICI)1096-8628(19961230)66:4<433::AID-AJMG9>3.0.CO;2-L",
language = "English (US)",
volume = "66",
pages = "433--437",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Syntelencephaly in an infant of a diabetic mother

AU - Robin, N. H.

AU - Ko, L. M.

AU - Heeger, S.

AU - Muise, K. L.

AU - Judge, Nancy E.

AU - Bangert, B. A.

PY - 1996

Y1 - 1996

N2 - Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric 'fusion' (MIF), or syntelencephaly. This is a rare anomaly characterized by segmental failure of cleavage of the cerebral hemispheres and other brain structures in the posterior frontal and parietal regions, with a normal interhemispheric fissure anterior and posterior to the 'fused' region. While there is obvious overlap with holoprosencephaly (HPE), this condition differs from HPE in that the midline 'fusion' in MIF is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior 'fusion.' However, while it is apparent that there are key distinctions between MIF and HPE, in all likelihood they arise from a similar pathogenetic mechanism. We therefore suggest that MIF is a distinct variant of the HPE spectrum of midline brain anomalies. Given the known increased incidence of HPE in IDMs, MIF is likely a maternal diabetes-associated malformation.

AB - Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric 'fusion' (MIF), or syntelencephaly. This is a rare anomaly characterized by segmental failure of cleavage of the cerebral hemispheres and other brain structures in the posterior frontal and parietal regions, with a normal interhemispheric fissure anterior and posterior to the 'fused' region. While there is obvious overlap with holoprosencephaly (HPE), this condition differs from HPE in that the midline 'fusion' in MIF is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior 'fusion.' However, while it is apparent that there are key distinctions between MIF and HPE, in all likelihood they arise from a similar pathogenetic mechanism. We therefore suggest that MIF is a distinct variant of the HPE spectrum of midline brain anomalies. Given the known increased incidence of HPE in IDMs, MIF is likely a maternal diabetes-associated malformation.

KW - holoprosencephaly

KW - infant of a diabetic mother

KW - middle interhemispheric fusion

KW - midline brain malformation

KW - syntelencephaly

UR - http://www.scopus.com/inward/record.url?scp=0030445541&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030445541&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19961230)66:4<433::AID-AJMG9>3.0.CO;2-L

DO - 10.1002/(SICI)1096-8628(19961230)66:4<433::AID-AJMG9>3.0.CO;2-L

M3 - Article

C2 - 8989462

AN - SCOPUS:0030445541

VL - 66

SP - 433

EP - 437

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -