| A Case of Saldino-Noonan Type Short Rib-Polydactyly Syndrome |
|
Hye Young Han1, Gwang Hoon Lee1, Eell Ryoo1, Kang Ho Cho1, Mi Jin Jung1, Gil Hyun Kim1, Hak Soo Lee1, Hyuni Cho2 |
1Department of Pediatrics, Gachon Medical School, Incheon, Korea
2Department of Anatomical Pathology, Gachon Medical School, Incheon, Korea |
| Saldino-Noonan형 Short Rib-Polydactyly Syndrome 1례 |
|
한혜영1, 이광훈1, 류 일1, 조강호1, 정미진1, 김길현1, 이학수1, 조현이2 |
1가천의과대학 소아과학교실
2가천의과대학 해부병리과학교실 |
|
|
|
|
| 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. |
| Key Words:
Short rib-polydactyly syndrome, Saldino-Noonan type |
|
PDF Links
Download Citation
