Short rib-polydactyly syndrome: more evidence of a continuous spectrum.
We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.
Sarafoglou
K
K
Department of Pediatrics, New York University School of Medicine, New York, USA.
Funai
E F
EF
Fefferman
N
N
Zajac
L
L
Geneiser
N
N
Paidas
M J
MJ
Greco
A
A
Wallerstein
R
R
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D000293:Adolescent; D003937:Diagnosis, Differential; D005260:Female; D005269:Femur / Q000033:anatomy & histology; D006801:Humans; D008297:Male; D010641:Phenotype; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000033:anatomy & histology; D013577:Syndrome; D016216:Ultrasonography, Prenatal