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.

Myelodysplasia

Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.


合計: 2

                       


（表示件数）
PMID (PMCID)
12745283
 MALE Adult
T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome.
Chanan-Khan A, Holkova B, Perle MA, Reich E, Wu CD, Inghirami G, Takeshita K.
Haematologica. 2003;88(5):ECR14.
T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome.
8182723
 FEMALE Adult
Acute myeloid leukaemia in a patient with Seckel syndrome.
Hayani A, Suarez CR, Molnar Z, LeBeau M, Godwin J.
J Med Genet. 1994;31(2):148-9.
We suggest that patients with Seckel syndrome may be at risk of developing myelodysplasia and acute myeloid leukaemia.