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Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.
. 2004 Sep 15; 130A(1):92-5.

Abstract

In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

Authors+Show Affiliations

Clinical Genetics Section, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. yalanay@hacettepe.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15368502

Citation

Alanay, Yasemin, et al. "Oculo-palato-cerebral Syndrome: a Third Case Supporting Autosomal Recessive Inheritance." American Journal of Medical Genetics. Part A, vol. 130A, no. 1, 2004, pp. 92-5.
Alanay Y, Boduroglu K, Sönmez B, et al. Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance. Am J Med Genet A. 2004;130A(1):92-5.
Alanay, Y., Boduroglu, K., Sönmez, B., & Orhan, M. (2004). Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance. American Journal of Medical Genetics. Part A, 130A(1), 92-5.
Alanay Y, et al. Oculo-palato-cerebral Syndrome: a Third Case Supporting Autosomal Recessive Inheritance. Am J Med Genet A. 2004 Sep 15;130A(1):92-5. PubMed PMID: 15368502.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance. AU - Alanay,Yasemin, AU - Boduroglu,Koray, AU - Sönmez,Bariş, AU - Orhan,Mehmet, PY - 2004/9/16/pubmed PY - 2004/12/16/medline PY - 2004/9/16/entrez SP - 92 EP - 5 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 130A IS - 1 N2 - In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15368502/Oculo_palato_cerebral_syndrome:_a_third_case_supporting_autosomal_recessive_inheritance_ L2 - https://doi.org/10.1002/ajmg.a.30114 DB - PRIME DP - Unbound Medicine ER -