Affected sisters were reported by Black (1961). Multiple occurrence in the same sibship, increased frequency of parental consanguinity, occurrence in both sexes, and normal parents suggest autosomal recessive inheritance. Mental retardation is not as marked as might be expected in view of the very small brain. In addition to dwarfism of 'low birth weight' type, the features are small head, large eyes, beak-like protrusion of the nose, narrow face, and receding lower jaw. Seckel (1960) produced the definitive publication based on 2 personally observed cases and 13 reliable plus 11 less reliable cases from the literature. This condition was given the 2 names bird-headed dwarfism and nanocephaly by Virchow.
(2003) was found to be in error see History section.
The report of a Seckel syndrome locus on chromosome 14q, designated SCK元, by Kilinc et al. Other forms of Seckel syndrome include SCKL2 ( 606744), caused by mutation in the RBBP8 gene ( 604124) on chromosome 18q11 SCKL4 ( 613676), caused by mutation in the CENPJ gene ( 609279) on chromosome 13q12 SCKL5 ( 613823), caused by mutation in the CEP152 gene ( 613529) on chromosome 15q21 SCKL6 ( 614728), caused by mutation in the CEP63 gene ( 614724) on chromosome 3q22 SCKL7 ( 614851), caused by mutation in the NIN gene ( 608684) on chromosome 14q22 SCKL8 ( 615807), caused by mutation in the DNA2 gene ( 601810) on chromosome 10q21 SCKL9 ( 616777), caused by mutation in the TRAIP gene ( 605958) on chromosome 3p21 and SCKL10 ( 617253), caused by mutation in the NSMCE2 gene ( 617246) on chromosome 8q24. Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance ( Shanske et al., 1997).
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