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A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency.
Am J Med Genet. 1987 Apr; 26(4):825-31.AJ

Abstract

We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3109242

Citation

Bouwes Bavinck, J N., et al. "A Syndrome of Microcephaly, Eye Anomalies, Short Stature, and Mental Deficiency." American Journal of Medical Genetics, vol. 26, no. 4, 1987, pp. 825-31.
Bouwes Bavinck JN, Weaver DD, Ellis FD, et al. A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency. Am J Med Genet. 1987;26(4):825-31.
Bouwes Bavinck, J. N., Weaver, D. D., Ellis, F. D., & Ward, R. E. (1987). A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency. American Journal of Medical Genetics, 26(4), 825-31.
Bouwes Bavinck JN, et al. A Syndrome of Microcephaly, Eye Anomalies, Short Stature, and Mental Deficiency. Am J Med Genet. 1987;26(4):825-31. PubMed PMID: 3109242.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency. AU - Bouwes Bavinck,J N, AU - Weaver,D D, AU - Ellis,F D, AU - Ward,R E, PY - 1987/4/1/pubmed PY - 1987/4/1/medline PY - 1987/4/1/entrez SP - 825 EP - 31 JF - American journal of medical genetics JO - Am J Med Genet VL - 26 IS - 4 N2 - We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3109242/A_syndrome_of_microcephaly_eye_anomalies_short_stature_and_mental_deficiency_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=26&issue=4&spage=825 DB - PRIME DP - Unbound Medicine ER -