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A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance

✍ Scribed by J. Sánchez-Corona; D. García-Cruz; A. González-Angulo; M. C. Alvarez-Arratia; R. M. Rodríguez; J. M. Cantú


Book ID
104708334
Publisher
Springer
Year
1985
Tongue
English
Weight
902 KB
Volume
69
Category
Article
ISSN
0340-6717

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SHORT syndrome: A new case with probable
✍ Sorge, Giovanni; Ruggieri, Martino; Polizzi, Agata; Scuderi, Antonino; Di Pietro 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed