[Seckel syndrome report of a case and review of literature]
Genetics in the 3rd Millennium. 2008; 6 (2): 1356-1358
in Persian
| IMEMR
| ID: emr-104756
ABSTRACT
Seckel syndrome is a rare autosomal recessive disorder with a typical "bird-headed" appearance. It characterized by proportionate dwarfism, mental retardation, microcephaly, and growth retardation. In this article we introduce a 7-year-old girl with short stature, microcephaly and mental retardation. She had a characteristic face with receding forehead, prominent nose, micrognathia, low set ears, down slanting palpebral fissure.We believed, she suffers from Seckel Syndrome or bird-headed dwarfism syndrome
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Index:
IMEMR (Eastern Mediterranean)
Language:
Persian
Journal:
Genet. in the 3rd Millenium
Year:
2008
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