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Table 1 The comparison of features typical of SHORT syndrome, with our patient’s features

From: SHORT syndrome in a two-year-old girl – case report

Typical features of SHORT syndrome Our patient’s features
Development Short stature +
Low body weight +
Phenotypic traits Triangular face +
Prominent forehead +
Small chin +
Thin or underdeveloped nostrils/
Hypoplastic nasal alae
+
Large mouth with thin, downturned lips +
Low set ears +
Eyes Rieger anomaly -
Deeply-set eyes +
Glaucoma -
Cataract -
Myopia -
Teeth Delayed teething +
Small teeth/microdontia +
Hypodontia -
Lack of protective layer -
Bones and joints Delayed bone age +
Joint hyperextensibility -
Clinodactyly -
Skin and subcutaneous tissue Thin and wrinkled skin with well-visible blood vessels +
Lipoatrophy +
Nervous system and cognitive function Intelligence within normal ranges +
Delayed speech development +
Urinary system Nephrocalcinosis -
Endocrine system Glucose intolerance/ diabetes mellitus -
Insulin resistance -