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New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.
Am J Med Genet. 1995 Jan 30; 55(3):367-71.AJ

Abstract

We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome.

Authors+Show Affiliations

Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7537019

Citation

Bagatelle, R, and S B. Cassidy. "New Syndrome of Macrocephaly, Hypertelorism, Short Limbs, Hearing Loss, and Developmental Delay." American Journal of Medical Genetics, vol. 55, no. 3, 1995, pp. 367-71.
Bagatelle R, Cassidy SB. New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay. Am J Med Genet. 1995;55(3):367-71.
Bagatelle, R., & Cassidy, S. B. (1995). New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay. American Journal of Medical Genetics, 55(3), 367-71.
Bagatelle R, Cassidy SB. New Syndrome of Macrocephaly, Hypertelorism, Short Limbs, Hearing Loss, and Developmental Delay. Am J Med Genet. 1995 Jan 30;55(3):367-71. PubMed PMID: 7537019.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay. AU - Bagatelle,R, AU - Cassidy,S B, PY - 1995/1/30/pubmed PY - 1995/1/30/medline PY - 1995/1/30/entrez SP - 367 EP - 71 JF - American journal of medical genetics JO - Am J Med Genet VL - 55 IS - 3 N2 - We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7537019/New_syndrome_of_macrocephaly_hypertelorism_short_limbs_hearing_loss_and_developmental_delay_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=55&issue=3&spage=367 DB - PRIME DP - Unbound Medicine ER -