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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.

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Authors+Show Affiliations

Jespers A
Department of Neonatal Intensive Care, Children's Hospital, Antwerp, Belgium.
Buntinx I
No affiliation info available
Melis K
No affiliation info available
Vaerenberg M
No affiliation info available
Janssens G
No affiliation info available

MeSH

Abnormalities, MultipleAgenesis of Corpus CallosumBrainCerebellumCleft PalateDiagnosis, DifferentialFaceGenes, RecessiveHeart Defects, CongenitalHirschsprung DiseaseHumansHypertelorismInfant, NewbornMaleSyndrome

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 -