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A new syndrome with distinct facial and auricular malformations and dominant inheritance

✍ Scribed by Simosa, Venancio ;Penchaszadeh, Victor B. ;Bustos, Tania ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
306 KB
Volume
32
Category
Article
ISSN
0148-7299

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SHORT syndrome: A new case with probable
✍ Sorge, Giovanni; Ruggieri, Martino; Polizzi, Agata; Scuderi, Antonino; Di Pietro πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 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