Seckel syndrome with chromosomal 18 deletion.
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.
Panigrahi
Inusha
I
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India. inupan@yahoo.com
Kaur
Satvinder
S
Kulkarni
Ketan
K
Das
Reena
R
Marwaha
Ram Kumar
RK
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