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Short rib-polydactyly syndrome type I, Saldino-Noonan

✍ Scribed by Nobuhiro Kaibara; Masao Eguchi; Kenichiro Shibata; Kenji Takagishi


Book ID
104776946
Publisher
Springer
Year
1980
Tongue
English
Weight
794 KB
Volume
133
Category
Article
ISSN
0340-6997

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✦ Synopsis


A case of the S a l d i n o -N o o n a n type of short rib-polydactyly syndrome is reported. Although multiple internal m a l f o r m a t i o n s have been described in this syndrome, no significant visceral abnormalities were detected in this case except for the hypoplastic lungs. A similar case was reported by Spranger et al. in 1974.


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We describe a baby with external and internal anomalies of the Majewski form of the short rib-polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histolo

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Up to seven short-rib-polydactyly (SRP) syndromes have been identified so far with marked clinical and pathological overlap. We describe a 32-week-old, nonhydropic male fetus with thoracic ''dysplasia,'' short limbs, and unilateral postaxial polydactyly. All internal organs were normally developed,