Two cases further delineating the Sakoda complex

Melissa A. Dempsey, Wilfredo Torres-Martinez, Larry Walsh

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex.

Original languageEnglish
Pages (from-to)370-376
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number4
DOIs
StatePublished - Feb 15 2007

Fingerprint

Microphthalmos
Lissencephaly
Malformations of Cortical Development
Atrial Heart Septal Defects
Thumb
Optic Disk
Cleft Palate
Patient Rights
Optic Nerve
Sakoda Complex
Intellectual Disability
Blood Vessels
Epilepsy
Kidney

Keywords

  • Basal encephalocele
  • Cerebral malformation
  • Cleft palate
  • Corpus callosum
  • Frontonasal dysplasia
  • Microphthalmia
  • Morning glory syndrome
  • Sakoda complex

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Two cases further delineating the Sakoda complex. / Dempsey, Melissa A.; Torres-Martinez, Wilfredo; Walsh, Larry.

In: American Journal of Medical Genetics, Part A, Vol. 143, No. 4, 15.02.2007, p. 370-376.

Research output: Contribution to journalArticle

Dempsey, Melissa A. ; Torres-Martinez, Wilfredo ; Walsh, Larry. / Two cases further delineating the Sakoda complex. In: American Journal of Medical Genetics, Part A. 2007 ; Vol. 143, No. 4. pp. 370-376.
@article{689c0aa39fc14443949177b8a5d9313f,
title = "Two cases further delineating the Sakoda complex",
abstract = "Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex.",
keywords = "Basal encephalocele, Cerebral malformation, Cleft palate, Corpus callosum, Frontonasal dysplasia, Microphthalmia, Morning glory syndrome, Sakoda complex",
author = "Dempsey, {Melissa A.} and Wilfredo Torres-Martinez and Larry Walsh",
year = "2007",
month = "2",
day = "15",
doi = "10.1002/ajmg.a.31582",
language = "English",
volume = "143",
pages = "370--376",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Two cases further delineating the Sakoda complex

AU - Dempsey, Melissa A.

AU - Torres-Martinez, Wilfredo

AU - Walsh, Larry

PY - 2007/2/15

Y1 - 2007/2/15

N2 - Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex.

AB - Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex.

KW - Basal encephalocele

KW - Cerebral malformation

KW - Cleft palate

KW - Corpus callosum

KW - Frontonasal dysplasia

KW - Microphthalmia

KW - Morning glory syndrome

KW - Sakoda complex

UR - http://www.scopus.com/inward/record.url?scp=33846839413&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33846839413&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.31582

DO - 10.1002/ajmg.a.31582

M3 - Article

C2 - 17256790

AN - SCOPUS:33846839413

VL - 143

SP - 370

EP - 376

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 4

ER -