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Symptoms and Signs – Differential Diagnosis of Turner’s Syndrome
• Noonan’s syndrome, an autosomally dominant inherited disorder also characterized by loose nuchal skin, midface hypoplasia, canthal folds, and stenotic cardiac valvular defects and affecting males and females equally; also have normal chromosome constitutions
• Other conditions in the differential diagnosis of loose skin, whether or not associated with edema:
• Fetal hydantoin syndrome (loose nuchal skin, midface hypoplasia, distal digital hypoplasia)
• Disorders of chromosome constitution (trisomy 21, tetrasomy 12p mosaicism)
• Congenital lymphedema (Milroy’s edema)
• Noonan’s syndrome, an autosomally dominant inherited disorder also characterized by loose nuchal skin, midface hypoplasia, canthal folds, and stenotic cardiac valvular defects and affecting males and females equally; also have normal chromosome constitutions
• Other conditions in the differential diagnosis of loose skin, whether or not associated with edema:
• Fetal hydantoin syndrome (loose nuchal skin, midface hypoplasia, distal digital hypoplasia)
• Disorders of chromosome constitution (trisomy 21, tetrasomy 12p mosaicism)
• Congenital lymphedema (Milroy’s edema)
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