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Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Am J Med Genet A 2010; 152A(7):1621-6AJ

Abstract

We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.

Authors+Show Affiliations

Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK. mary.odriscoll@nhs.netNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20583147

Citation

O'Driscoll, Mary C., et al. "Agenesis of the Corpus Callosum and Congenital Lymphedema: a Novel Recognizable Syndrome?" American Journal of Medical Genetics. Part A, vol. 152A, no. 7, 2010, pp. 1621-6.
O'Driscoll MC, Jenny K, Saitta S, et al. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? Am J Med Genet A. 2010;152A(7):1621-6.
O'Driscoll, M. C., Jenny, K., Saitta, S., Dobyns, W. B., & Gripp, K. W. (2010). Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? American Journal of Medical Genetics. Part A, 152A(7), pp. 1621-6. doi:10.1002/ajmg.a.33200.
O'Driscoll MC, et al. Agenesis of the Corpus Callosum and Congenital Lymphedema: a Novel Recognizable Syndrome. Am J Med Genet A. 2010;152A(7):1621-6. PubMed PMID: 20583147.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? AU - O'Driscoll,Mary C, AU - Jenny,Kim, AU - Saitta,Sulagna, AU - Dobyns,William B, AU - Gripp,Karen W, PY - 2010/6/29/entrez PY - 2010/6/29/pubmed PY - 2010/9/30/medline SP - 1621 EP - 6 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 152A IS - 7 N2 - We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/20583147/Agenesis_of_the_corpus_callosum_and_congenital_lymphedema:_A_novel_recognizable_syndrome L2 - https://doi.org/10.1002/ajmg.a.33200 DB - PRIME DP - Unbound Medicine ER -