Tags

Type your tag names separated by a space and hit enter

Seckel-like syndrome in three siblings.
Pediatr Dev Pathol. 1999 Mar-Apr; 2(2):180-7.PD

Abstract

Seckel syndrome has been described as the prototype of the primordial bird-headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. This pleiotropy has implied genetic heterogeneity and prompted reviews of previously reported cases of Seckel syndrome. As a result, the characteristic diagnostic features of Seckel syndrome have been highly debated. Although deletions in chromosome 2q have been described, to date, no genetic defect has been defined. We report three cases of Seckel-like syndrome in siblings from nonconsanguinous Caucasian parents. In addition to the typical Seckel phenotypic features, all three cases were characterized by severe hydrocephalus. We review the literature and propose that there is a spectrum of Seckel conditions that share some common key features, but also demonstrate a wide range of phenotypic features.

Authors+Show Affiliations

Department of Pathology, University of South Florida College of Medicine, 12901 Bruce B. Downs Boulevard, MDC 11, Tampa, FL 33612-4742, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9949225

Citation

Arnold, S R., et al. "Seckel-like Syndrome in Three Siblings." Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, vol. 2, no. 2, 1999, pp. 180-7.
Arnold SR, Spicer D, Kouseff B, et al. Seckel-like syndrome in three siblings. Pediatr Dev Pathol. 1999;2(2):180-7.
Arnold, S. R., Spicer, D., Kouseff, B., Lacson, A., & Gilbert-Barness, E. (1999). Seckel-like syndrome in three siblings. Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2(2), 180-7.
Arnold SR, et al. Seckel-like Syndrome in Three Siblings. Pediatr Dev Pathol. 1999 Mar-Apr;2(2):180-7. PubMed PMID: 9949225.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Seckel-like syndrome in three siblings. AU - Arnold,S R, AU - Spicer,D, AU - Kouseff,B, AU - Lacson,A, AU - Gilbert-Barness,E, PY - 1999/2/9/pubmed PY - 1999/2/9/medline PY - 1999/2/9/entrez SP - 180 EP - 7 JF - Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society JO - Pediatr. Dev. Pathol. VL - 2 IS - 2 N2 - Seckel syndrome has been described as the prototype of the primordial bird-headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. This pleiotropy has implied genetic heterogeneity and prompted reviews of previously reported cases of Seckel syndrome. As a result, the characteristic diagnostic features of Seckel syndrome have been highly debated. Although deletions in chromosome 2q have been described, to date, no genetic defect has been defined. We report three cases of Seckel-like syndrome in siblings from nonconsanguinous Caucasian parents. In addition to the typical Seckel phenotypic features, all three cases were characterized by severe hydrocephalus. We review the literature and propose that there is a spectrum of Seckel conditions that share some common key features, but also demonstrate a wide range of phenotypic features. SN - 1093-5266 UR - https://www.unboundmedicine.com/medline/citation/9949225/Seckel_like_syndrome_in_three_siblings_ L2 - http://journals.sagepub.com/doi/full/10.1007/s100249900107?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -