[Roberts-SC phocomelia syndrome].
The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, heart defect, clitoral or penile enlargement, and bilateral corneal opacities. Mental retardation is common in surviving patients.
Musfeld
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Facharzt für Gynäkologie und Geburtshilfe, Praxisklinik Binningen, Schweiz, Germany. info@praxisklinik-binningen.ch
Bühler
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Heinzl
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D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000025:Abortion, Eugenic; D000328:Adult; D002503:Centromere / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal