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.

Pancytopenia

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).


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PMID (PMCID)
3115102
 MIXED_SAMPLE Child
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
Butler MG, Hall BD, Maclean RN, Lozzio CB.
Am J Med Genet. 1987;27(3):645-9.
The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive dwarfism syndrome with chromosome instability.