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Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?
Am J Med Genet. 1988 Sep; 31(1):17-23.AJ

Abstract

We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause.

Authors+Show Affiliations

Toriello HV
Butterworth Hospital, Grand Rapids, Michigan.
Carey JC
No affiliation info available

MeSH

Abnormalities, MultipleAgenesis of Corpus CallosumDiseases in TwinsFemaleGenes, RecessiveHumansInfant, NewbornInformation SystemsMaleSyndromeTwins, Monozygotic

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3223497

Citation

Toriello, H V., and J C. Carey. "Corpus Callosum Agenesis, Facial Anomalies, Robin Sequence, and Other Anomalies: a New Autosomal Recessive Syndrome?" American Journal of Medical Genetics, vol. 31, no. 1, 1988, pp. 17-23.
Toriello HV, Carey JC. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? Am J Med Genet. 1988;31(1):17-23.
Toriello, H. V., & Carey, J. C. (1988). Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? American Journal of Medical Genetics, 31(1), 17-23.
Toriello HV, Carey JC. Corpus Callosum Agenesis, Facial Anomalies, Robin Sequence, and Other Anomalies: a New Autosomal Recessive Syndrome. Am J Med Genet. 1988;31(1):17-23. PubMed PMID: 3223497.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? AU - Toriello,H V, AU - Carey,J C, PY - 1988/9/1/pubmed PY - 2000/5/16/medline PY - 1988/9/1/entrez SP - 17 EP - 23 JF - American journal of medical genetics JO - Am J Med Genet VL - 31 IS - 1 N2 - We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3223497/Corpus_callosum_agenesis_facial_anomalies_Robin_sequence_and_other_anomalies:_a_new_autosomal_recessive_syndrome DB - PRIME DP - Unbound Medicine ER -