A Case of Saldino-Noonan Type Short Rib-Polydactyly Syndrome
Journal of the Korean Pediatric Society
;
: 578-582, 2000.
Article
in Korean
| WPRIM
| ID: wpr-175885
ABSTRACT
Short rib-polydactyly syndrome (SRPS) is a rare type of skeletal dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. It is transmitted as a autosomal recessive trait. There have been 4 classic types of SRPS, of which Saldino-Noonan type is the most common, and is characterized by very narrow thorax, short limb, postaxial polydactyly, striking metaphyseal dysplasia of tubular bones, pelvic abnormalities, hypoplasia of iliac bones, flat acetabulae, and abnormalities of urogenital, anorectal and cardiovascular system. We report a newborn infant who had typical features of Saldino-Noonan type SRPS, clinically and radiologically and had compatible autopsy findings.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pelvic Bones
/
Short Rib-Polydactyly Syndrome
/
Autopsy
/
Strikes, Employee
/
Thorax
/
Cardiovascular System
/
Polydactyly
/
Extremities
/
Acetabulum
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2000
Type:
Article
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