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Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome?
Am J Med Genet. 1987 Feb; 26(2):345-54.AJ

Abstract

Two sibs who had hypesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, sensorineural hearing loss bilaterally, persistent ductus arteriosus, moderate mental retardation, and unusual facial appearance are described. Their mother had mild to moderate sensorineural hearing loss, retinal changes and similar facial features. The differential diagnosis is discussed. We believe this is a clinically distinct syndrome with autosomal dominant inheritance.

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Publisher Full Text

Authors

Ramos-Arroyo MA
No affiliation info available
Clark GG
No affiliation info available
Saksena SS
No affiliation info available
Hodes ME
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentCephalometryChildChild, PreschoolCorneal DiseasesDeafnessDiagnosis, DifferentialDuctus Arteriosus, PatentFaceFemaleHumansInfantIntellectual DisabilityMalePain Insensitivity, CongenitalRetinaSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2433942

Citation

Ramos-Arroyo, M A., et al. "Congenital Corneal Anesthesia With Retinal Abnormalities, Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation: a New Syndrome?" American Journal of Medical Genetics, vol. 26, no. 2, 1987, pp. 345-54.
Ramos-Arroyo MA, Clark GG, Saksena SS, et al. Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome? Am J Med Genet. 1987;26(2):345-54.
Ramos-Arroyo, M. A., Clark, G. G., Saksena, S. S., & Hodes, M. E. (1987). Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome? American Journal of Medical Genetics, 26(2), 345-54.
Ramos-Arroyo MA, et al. Congenital Corneal Anesthesia With Retinal Abnormalities, Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation: a New Syndrome. Am J Med Genet. 1987;26(2):345-54. PubMed PMID: 2433942.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome? AU - Ramos-Arroyo,M A, AU - Clark,G G, AU - Saksena,S S, AU - Hodes,M E, PY - 1987/2/1/pubmed PY - 1987/2/1/medline PY - 1987/2/1/entrez SP - 345 EP - 54 JF - American journal of medical genetics JO - Am J Med Genet VL - 26 IS - 2 N2 - Two sibs who had hypesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, sensorineural hearing loss bilaterally, persistent ductus arteriosus, moderate mental retardation, and unusual facial appearance are described. Their mother had mild to moderate sensorineural hearing loss, retinal changes and similar facial features. The differential diagnosis is discussed. We believe this is a clinically distinct syndrome with autosomal dominant inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2433942/Congenital_corneal_anesthesia_with_retinal_abnormalities_deafness_unusual_facies_persistent_ductus_arteriosus_and_mental_retardation:_a_new_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=26&issue=2&spage=345 DB - PRIME DP - Unbound Medicine ER -