title: Seckel syndrome with chromosomal 18 deletion.
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.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India. inupan@yahoo.com
authors.forename: Inusha
authors.initials: I
authors.lastname: Panigrahi
authors.forename: Satvinder
authors.initials: S
authors.lastname: Kaur
authors.forename: Ketan
authors.initials: K
authors.lastname: Kulkarni
authors.forename: Reena
authors.initials: R
authors.lastname: Das
authors.forename: Ram Kumar
authors.initials: RK
authors.lastname: Marwaha
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D013577:Syndrome