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Tetra-amelia and splenogonadal fusion in Roberts syndrome

✍ Scribed by de Ravel, Thomy J. L.; Seftel, Matthew D.; Wright, Colleen A.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 258 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q

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✦ Synopsis

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe expression of the Roberts-SC phocomelia syndrome. Am.

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