-transparent.png){kind=logo}
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.
Related Publications
M Satar, and
A Atici, and
U Bişak, and
N Tunali
January 1986,
La Pediatria medica e chirurgica : Medical and surgical pediatrics,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
June 2001,
Indian journal of pediatrics,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
January 2000,
Ryoikibetsu shokogun shirizu,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
January 2001,
Gynakologisch-geburtshilfliche Rundschau,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
January 1989,
Annales de genetique,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
September 1990,
American journal of medical genetics,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
March 2013,
Journal of family & reproductive health,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
January 1982,
Human genetics,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
March 1987,
Clinical genetics,
M Satar, and
A Atici, and
U Bişak, and
N Tunali
October 1992,
Laboratory animal science,
