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Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.
Am J Med Genet. 1997 Dec 31; 73(4):442-6.AJ

Abstract

We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies. To our knowledge, there is just one similar description of this syndrome in three members of a Brazilian kindred whose parents were also consanguineous, suggesting autosomal recessive inheritance. We compare the findings of our patient with these previous reported cases and discuss the differential diagnoses of this new syndrome, which we suggest be named the acro-oto-ocular syndrome.

Authors+Show Affiliations

Department of Pediatrics and Human Development, Michigan State University, East Lansing 48824-1317, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9415472

Citation

Bertola, D R., et al. "Acro-oto-ocular Syndrome: Further Evidence for a New Autosomal Recessive Disorder." American Journal of Medical Genetics, vol. 73, no. 4, 1997, pp. 442-6.
Bertola DR, Wolf LM, Toriello HV, et al. Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder. Am J Med Genet. 1997;73(4):442-6.
Bertola, D. R., Wolf, L. M., Toriello, H. V., & Netzloff, M. L. (1997). Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder. American Journal of Medical Genetics, 73(4), 442-6.
Bertola DR, et al. Acro-oto-ocular Syndrome: Further Evidence for a New Autosomal Recessive Disorder. Am J Med Genet. 1997 Dec 31;73(4):442-6. PubMed PMID: 9415472.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder. AU - Bertola,D R, AU - Wolf,L M, AU - Toriello,H V, AU - Netzloff,M L, PY - 1998/2/7/pubmed PY - 2000/6/20/medline PY - 1998/2/7/entrez SP - 442 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 73 IS - 4 N2 - We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies. To our knowledge, there is just one similar description of this syndrome in three members of a Brazilian kindred whose parents were also consanguineous, suggesting autosomal recessive inheritance. We compare the findings of our patient with these previous reported cases and discuss the differential diagnoses of this new syndrome, which we suggest be named the acro-oto-ocular syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9415472/Acro_oto_ocular_syndrome:_further_evidence_for_a_new_autosomal_recessive_disorder_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1997&volume=73&issue=4&spage=442 DB - PRIME DP - Unbound Medicine ER -