Roberts-SC phocomelia syndrome: a case with additional anomalies.
Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder with symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation and mental retardation. Patients with RS were reported to have premature separation of heterochromatin of many chromosomes. We report an infant whose clinical, radiologic and chromosomal findings resemble those of RS, with rudimentary gallbladder and accessory spleen. This patient may represent a variant of RS.
Satar
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Department of Pediatrics, Faculty of Medicine University of Cukurova, Adana, Turkey.
Atici
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A
Bişak
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U
Tunali
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N
D000015:Abnormalities, Multiple / Q000235:genetics; D004480:Ectromelia / Q000235:genetics; D005704:Gallbladder / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome