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Roberts‐SC phocomelia syndrome: a case with additional anomalies
Author(s) -
Satar Mehmet,
Atici Aytuğ,
Bişak Ufuk,
Tunali Nurdan
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04004.x
Subject(s) - craniofacial , craniofacial abnormality , ectromelia , growth retardation , osteochondrodysplasia , medicine , biology , anatomy , genetics , pregnancy , virus
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.