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Seckel syndrome

Dr Abhilash Sandhyala and Dr Yuranga Weerakkody et al.

The Seckel syndrome is an autosomal recessive congenital dwarfing disorder.

Epidemiology

The estimated incidence is at ~ 1 : 10000. There is no recognised gender predilection.

Clinical features

It is clinically characterised by many features including

intrauterine growth restriction (IUGR)
postnatal growth delay
microcephaly ⁷
mental retardation
facial dysmorphisms
- micrognathia
- recessed forehead
- large beaked nose

Pathology

It is considered a type of primordial dwarfism.

Genetics

The abnormal genes have been mapped to two loci on chromosomes 3q and 18p ^7-8.

Associations

congenital brain malformations
intracranial aneurysms

Radiographic features

May show any of the of the clinical features shown above. Additional skeletal features may include.

ivory epiphyses ³
cone-shaped epiphyses in the proximal phalanges ³.
absent thumb

Etymology

Named after Helmut Paul George Seckel : American (US) physician (1900 - 1960)

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