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A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome).
Birth Defects Orig Artic Ser. 1971 Jun; 7(7):83-6.BD

Abstract

A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

5173248

Citation

Cohen, M M., et al. "A Dominantly Inherited Syndrome of Hyaloideoretinal Degeneration, Cleft Palate and Maxillary Hypoplasia (Cervenka Syndrome)." Birth Defects Original Article Series, vol. 7, no. 7, 1971, pp. 83-6.
Cohen MM, Knobloch WH, Gorlin RJ. A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). Birth Defects Orig Artic Ser. 1971;7(7):83-6.
Cohen, M. M., Knobloch, W. H., & Gorlin, R. J. (1971). A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). Birth Defects Original Article Series, 7(7), 83-6.
Cohen MM, Knobloch WH, Gorlin RJ. A Dominantly Inherited Syndrome of Hyaloideoretinal Degeneration, Cleft Palate and Maxillary Hypoplasia (Cervenka Syndrome). Birth Defects Orig Artic Ser. 1971;7(7):83-6. PubMed PMID: 5173248.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). AU - Cohen,M M, AU - Knobloch,W H, AU - Gorlin,R J, PY - 1971/6/1/pubmed PY - 1971/6/1/medline PY - 1971/6/1/entrez SP - 83 EP - 6 JF - Birth defects original article series JO - Birth Defects Orig Artic Ser VL - 7 IS - 7 N2 - A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/5173248/A_dominantly_inherited_syndrome_of_hyaloideoretinal_degeneration_cleft_palate_and_maxillary_hypoplasia__Cervenka_syndrome__ L2 - https://www.diseaseinfosearch.org/result/1672 DB - PRIME DP - Unbound Medicine ER -