Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Sex reversal

Development of the reproductive system is inconsistent with the chromosomal sex.


合計: 1

                       


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PMID (PMCID)
11424145
 FEMALE Infant, Newborn
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies.
Silengo M, Del Monaco A, Linari A, Lala R.
Am J Med Genet. 2001;101(3):275-8.
The 46,XY patient would then be the first case of Seckel syndrome with sex reversal and agonadism.