Two sisters with telangiectases [corrected], spondyloepiphyseal dysplasia, hypothyroidism, neovascularization and tractional retinal detachments: a new entity?
Two sisters had an unusual constellation of findings, including telangiectases [corrected] involving the face and limbs, unclassifiable spondyloepiphyseal dysplasia, hypothyroidism, and tractional retinal detachment preceded by retinal and iris neovascularization. To our knowledge, this combination of defects has not been previously documented in the literature.
Lavin
M P
MP
Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee 53266.
Olson
J C
JC
Ruttum
M S
MS
Esterly
N B
NB
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D009389:Neovascularization, Pathologic; D010009:Osteochondrodysplasias / Q000235:genetics*; D011247:Pregnancy; D012163:Retinal Detachment / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics*; D012171:Retinal Vessels / Q000002:abnormalities; D013577:Syndrome; D013684:Telangiectasis / Q000235:genetics*