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  • Title: Roberts syndrome with normal cell division.
    Author: Keppen LD, Gollin SM, Seibert JJ, Sisken JE.
    Journal: Am J Med Genet; 1991 Jan; 38(1):21-4. PubMed ID: 2012128.
    Abstract:
    Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syndrome.
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