Seckel syndrome with chromosomal 18 deletion.

Panigrahi, Inusha; Kaur, Satvinder; Kulkarni, Ketan; Das, Reena; Marwaha, Ram Kumar

Panigrahi, Inusha; Kaur, Satvinder; Kulkarni, Ketan; Das, Reena; Marwaha, Ram Kumar.

Indian J Pediatr ; 2009 Dec; 76(12): 1270-1271

Article in English | IMSEAR | ID: sea-142458

ABSTRACT

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.

Subject(s)

Abnormalities, Multiple/genetics; Abnormalities, Multiple/pathology; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 18; Craniofacial Abnormalities/genetics; Craniofacial Abnormalities/pathology; Dwarfism/genetics; Dwarfism/pathology; Female; Humans; Infant; Intellectual Disability/genetics; Intellectual Disability/pathology; Male; Microcephaly/genetics; Microcephaly/pathology; Syndrome

Chromosome 18; Neuroimaging; Heterogeneity; Microcephaly; Seckel syndrome

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Syndrome / Abnormalities, Multiple / Chromosomes, Human, Pair 18 / Female / Humans / Male / Child, Preschool / Chromosome Deletion / Craniofacial Abnormalities / Dwarfism Language: English Journal: Indian J Pediatr Year: 2009 Type: Article

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