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Open and closed lip schizencephaly in Seckel syndrome: a case report.
J Child Neurol. 2010 Apr; 25(4):494-6.JC

Abstract

Seckel syndrome (Online Mendelian Inheritance in Man database Number 210600) is the classic prototype of primordial bird-headed dwarfism. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities of the cardiovascular, hematopoietic, endocrine, and central nervous systems are described. The full phenotypic spectrum of this clinically and genetically heterogeneous syndrome is yet to be delineated. Presented herein is a boy 2 years and 5 months old, with Seckel syndrome, born to second-degree consanguineous Muslim parents. In addition to the classic phenotype of the disorder, this patient had both, an open and a closed lip schizencephaly detected on cranial computed tomography (CT) scan. To our knowledge, the association of schizencephaly and Seckel syndrome is not described previously in the English language literature. In addition, presented briefly is a review of the anatomical cerebral cortical malformations associated with this syndrome.

Authors+Show Affiliations

Department of Pediatrics The Institute of Child Health, Kolkata, West Bengal, India. rajoothapa@yahoo.co.inNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19794099

Citation

Thapa, Rajoo, et al. "Open and Closed Lip Schizencephaly in Seckel Syndrome: a Case Report." Journal of Child Neurology, vol. 25, no. 4, 2010, pp. 494-6.
Thapa R, Mallick D, Biswas B, et al. Open and closed lip schizencephaly in Seckel syndrome: a case report. J Child Neurol. 2010;25(4):494-6.
Thapa, R., Mallick, D., Biswas, B., & Ghosh, A. (2010). Open and closed lip schizencephaly in Seckel syndrome: a case report. Journal of Child Neurology, 25(4), 494-6. https://doi.org/10.1177/0883073809338873
Thapa R, et al. Open and Closed Lip Schizencephaly in Seckel Syndrome: a Case Report. J Child Neurol. 2010;25(4):494-6. PubMed PMID: 19794099.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Open and closed lip schizencephaly in Seckel syndrome: a case report. AU - Thapa,Rajoo, AU - Mallick,Debkrishna, AU - Biswas,Biswajit, AU - Ghosh,Apurba, Y1 - 2009/09/30/ PY - 2009/10/2/entrez PY - 2009/10/2/pubmed PY - 2010/6/30/medline SP - 494 EP - 6 JF - Journal of child neurology JO - J. Child Neurol. VL - 25 IS - 4 N2 - Seckel syndrome (Online Mendelian Inheritance in Man database Number 210600) is the classic prototype of primordial bird-headed dwarfism. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities of the cardiovascular, hematopoietic, endocrine, and central nervous systems are described. The full phenotypic spectrum of this clinically and genetically heterogeneous syndrome is yet to be delineated. Presented herein is a boy 2 years and 5 months old, with Seckel syndrome, born to second-degree consanguineous Muslim parents. In addition to the classic phenotype of the disorder, this patient had both, an open and a closed lip schizencephaly detected on cranial computed tomography (CT) scan. To our knowledge, the association of schizencephaly and Seckel syndrome is not described previously in the English language literature. In addition, presented briefly is a review of the anatomical cerebral cortical malformations associated with this syndrome. SN - 1708-8283 UR - https://www.unboundmedicine.com/medline/citation/19794099/Open_and_closed_lip_schizencephaly_in_Seckel_syndrome:_a_case_report_ L2 - http://journals.sagepub.com/doi/full/10.1177/0883073809338873?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -