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Seckel syndrome with chromosomal 18 deletion.
Indian J Pediatr. 2009 Dec; 76(12):1270-1.IJ

Abstract

Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.

Authors+Show Affiliations

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India. inupan@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20012807

Citation

Panigrahi, Inusha, et al. "Seckel Syndrome With Chromosomal 18 Deletion." Indian Journal of Pediatrics, vol. 76, no. 12, 2009, pp. 1270-1.
Panigrahi I, Kaur S, Kulkarni K, et al. Seckel syndrome with chromosomal 18 deletion. Indian J Pediatr. 2009;76(12):1270-1.
Panigrahi, I., Kaur, S., Kulkarni, K., Das, R., & Marwaha, R. K. (2009). Seckel syndrome with chromosomal 18 deletion. Indian Journal of Pediatrics, 76(12), 1270-1. https://doi.org/10.1007/s12098-009-0223-x
Panigrahi I, et al. Seckel Syndrome With Chromosomal 18 Deletion. Indian J Pediatr. 2009;76(12):1270-1. PubMed PMID: 20012807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Seckel syndrome with chromosomal 18 deletion. AU - Panigrahi,Inusha, AU - Kaur,Satvinder, AU - Kulkarni,Ketan, AU - Das,Reena, AU - Marwaha,Ram Kumar, Y1 - 2009/12/11/ PY - 2008/06/03/received PY - 2009/04/09/accepted PY - 2009/12/17/entrez PY - 2009/12/17/pubmed PY - 2010/4/22/medline SP - 1270 EP - 1 JF - Indian journal of pediatrics JO - Indian J Pediatr VL - 76 IS - 12 N2 - Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information. SN - 0973-7693 UR - https://www.unboundmedicine.com/medline/citation/20012807/Seckel_syndrome_with_chromosomal_18_deletion_ L2 - https://dx.doi.org/10.1007/s12098-009-0223-x DB - PRIME DP - Unbound Medicine ER -