T-cell clonality and myelodysplasia without chromo- somal fragility in a patient with features of Seckel syndrome Seckel syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmor-
نویسندگان
چکیده
Seckel syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism, skeletal defects, mental and prenatal growth retardation. About 50 cases have been reported in the literature. Hematologic abnormalities with associated chromosomal fragility have been noted in about 15% of the reported cases. We report a patient with Seckel syndrome with myelodysplastic features and clonal T-cells in the bone marrow but no evidence of chromosomal fragility. After 5 years of follow-up, this patient remains asymptomatic without any treatment and with stable peripheral blood counts.
منابع مشابه
Craniofacial Morphology and Dental Findings of Seckel Syndrome: Case Reports of Two Siblings
Seckel Syndrome (SS) is a rare form of primordial autosomal recessive dwarfism involving multiple malformations. The major characteristic features of SS are intrauterine and postnatal growth deficiency, severe microcephaly, craniofacial dysmorphism which includes characteristic ‘Bird-headed’ appearance, prominent nose, sloped forehead, receding jaw, low-set ears with hypoplastic lobules and lar...
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