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Nose short

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Note what signs you see.

I (W. Wertelecki, M.D.) see a short upturned nose; a facies suggestive of oral breathing; perhaps a thin, sparse scalp hair. On the profile image the same is evident. These images were submitted by I.L., M.D.

PERSPECTIVE: On the basis of just two images it is imprudent to suggest diagnoses. In the context of a short upturned nose and perhaps an abnormal hair morphology, an alteration of the connective tissue should be considered. The number of possible diagnoses is vast. One possibility was advanced by I.L., M.D. – Marshall syndrome (MS). Such consideration implies that the clinicians may have additional evidence to suggest MS, perhaps evidence of a positive family history (MS is a manifestation of an autosomal dominant mutation) that impacts skeletal, cartilaginous and connective tissue structures (abnormal scull calcification, lack of frontal sinuses, cataracts, hearing loss, esotropia, glaucoma, protrusion of upper incisors, short nose and missing nasal bones …). Whether this patient has any of such signs we do not know. Further investigations of this patient should not only include the possibility of MS but of other conditions associated with the signs mentioned above.