Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?Am J Med Genet. 1993 Aug 15; 47(2):299-302.AJ
Abstract
We describe 2 sibs with multiple congenital anomalies. The main manifestations include hypoplasia of the corpus callosum and/or cerebellar hypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and Hirschsprung disease. The presence in 2 sibs born to healthy, consanguineous parents suggests autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition described in 1988 by Toriello and Carey.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Review
Language
eng
PubMed ID
8213924
Citation
Jespers, A, et al. "Two Siblings With Midline Field Defects and Hirschsprung Disease: Variable Expression of Toriello-Carey or New Syndrome?" American Journal of Medical Genetics, vol. 47, no. 2, 1993, pp. 299-302.
Jespers A, Buntinx I, Melis K, et al. Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? Am J Med Genet. 1993;47(2):299-302.
Jespers, A., Buntinx, I., Melis, K., Vaerenberg, M., & Janssens, G. (1993). Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? American Journal of Medical Genetics, 47(2), 299-302.
Jespers A, et al. Two Siblings With Midline Field Defects and Hirschsprung Disease: Variable Expression of Toriello-Carey or New Syndrome. Am J Med Genet. 1993 Aug 15;47(2):299-302. PubMed PMID: 8213924.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?
AU - Jespers,A,
AU - Buntinx,I,
AU - Melis,K,
AU - Vaerenberg,M,
AU - Janssens,G,
PY - 1993/8/15/pubmed
PY - 1993/8/15/medline
PY - 1993/8/15/entrez
SP - 299
EP - 302
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 47
IS - 2
N2 - We describe 2 sibs with multiple congenital anomalies. The main manifestations include hypoplasia of the corpus callosum and/or cerebellar hypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and Hirschsprung disease. The presence in 2 sibs born to healthy, consanguineous parents suggests autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition described in 1988 by Toriello and Carey.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/8213924/Two_siblings_with_midline_field_defects_and_Hirschsprung_disease:_variable_expression_of_Toriello_Carey_or_new_syndrome
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=2&spage=299
DB - PRIME
DP - Unbound Medicine
ER -