Abstract
The phenotipic characteristics of Noonan and Turner syndromes was confronted in order to point out the signs which are common to both of them and the proper somatic features to each one. Two new signs are described in Noonan syndrome: the eyebrows alopecia of the hind portions and keratosis rubra pilaris. Proper phisical findings in Noonan syndrome (28 cases): Characteristic similar facies 100%. Antimongoloid slanting of palpebral fissures 100%. Depressed bridge of the nose 93%. Eyebrows alopecia of the hind portions 89%. Prominent lips 89%. Hypertelorism 76%. Pectus excavatum 63%. Curly hair 61%. Keratosis rubra pilaris 43%. Common features in Noonan and Turner syndrome:short stature, epicanthic folds, ptosis, low set or malformed ears, webbed neck, low posterior hairline, highly arched palate, cubitus valgus. Proper findings in Turner syndrome (30 cases): Multiple nevus: 83%. Dysplastic fingernails 59%. Short fourth metacarpal 39%. Direct familial transmission was observed in two cases of Noonan syndrome in the presented cases.
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de Otero, C., de Majo, B. & Reichmann Amelia, S. 64 NOONAN SYNDROME, DIFFERENTIAL DIAGNOSIS WITH TURNER SYNDROME. Pediatr Res 15, 193 (1981). https://doi.org/10.1203/00006450-198102000-00121
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DOI: https://doi.org/10.1203/00006450-198102000-00121