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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

-