Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis that this group of disorders might be a continuous spectrum rather than separate entities.
Martínez-Frías
M L
ML
ECEMC Coordinating Group, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Bermejo
E
E
Urioste
M
M
Huertas
H
H
Arroyo
I
I
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D005260:Female; D005313:Fetal Death / Q000235:genetics / Q000473:pathology; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn; D017689:Polydactyly / Q000235:genetics*; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome