A new case of Grange syndrome without cardiac findings.
Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest cases, in a third family, a 3-year-old girl with brachysyndactyly, renal artery stenosis with hypertension, and bone fragility. She does not have apparent cardiac disease, suggesting cardiac anomalies may not be an obligatory finding in this syndrome.
Wallerstein
Robert
R
Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey 07601, USA. rwallerstein@humed.com
Augustyn
Ann Marie
AM
Wallerstein
Donna
D
Elton
Leslie
L
Tejeiro
Beatriz
B
Johnson
Valerie
V
Lieberman
Kenneth
K
D000015:Abnormalities, Multiple / Q000473:pathology*; D001851:Bone Diseases, Metabolic / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D006978:Hypertension, Renovascular / Q000150:complications; D007859:Learning Disabilities / Q000235:genetics; D011859:Radiography; D012077:Renal Artery / Q000002:abnormalities / Q000000981:diagnostic imaging; D013576:Syndactyly / Q000000981:diagnostic imaging*; D013577:Syndrome