Tags

Type your tag names separated by a space and hit enter

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

Bouwes Bavinck JN
No affiliation info available
Weaver DD
No affiliation info available
Ellis FD
No affiliation info available
Ward RE
No affiliation info available

MeSH

Abnormalities, MultipleEyeEye AbnormalitiesFemaleGrowth DisordersHumansIntellectual DisabilityMaleMicrocephalySyndrome

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_ DB - PRIME DP - Unbound Medicine ER -