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Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome).
Am J Ophthalmol. 1995 Aug; 120(2):256-8.AJ

Abstract

PURPOSE/METHODS

Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions.

RESULTS/CONCLUSION

Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. No ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia.

Authors+Show Affiliations

Department of Ophthalmology, Washington University Medical Center, St. Louis, MO 63110, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7639315

Citation

Lueder, G T., and R D. Steiner. "Corneal Abnormalities in a Mother and Daughter With Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome)." American Journal of Ophthalmology, vol. 120, no. 2, 1995, pp. 256-8.
Lueder GT, Steiner RD. Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). Am J Ophthalmol. 1995;120(2):256-8.
Lueder, G. T., & Steiner, R. D. (1995). Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). American Journal of Ophthalmology, 120(2), 256-8.
Lueder GT, Steiner RD. Corneal Abnormalities in a Mother and Daughter With Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome). Am J Ophthalmol. 1995;120(2):256-8. PubMed PMID: 7639315.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). AU - Lueder,G T, AU - Steiner,R D, PY - 1995/8/1/pubmed PY - 1995/8/1/medline PY - 1995/8/1/entrez SP - 256 EP - 8 JF - American journal of ophthalmology JO - Am J Ophthalmol VL - 120 IS - 2 N2 - PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions. RESULTS/CONCLUSION: Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. No ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia. SN - 0002-9394 UR - https://www.unboundmedicine.com/medline/citation/7639315/Corneal_abnormalities_in_a_mother_and_daughter_with_focal_dermal_hypoplasia__Goltz_Gorlin_syndrome__ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9394(14)72621-2 DB - PRIME DP - Unbound Medicine ER -