Article
SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Jul 2022
Mubeen Suhaym, Gibson Clara, Mubeen Raiyan, Mansour Sahar, Evans Robert D
Abstract excerpt
INTRODUCTION: SHORT syndrome is a rare autosomal dominant condition described by its acronym of short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger abnormality, and teething delay. Individuals have a distinct progeroid craniofacial appearance with a triangular face, frontal bossing, hypoplastic or thin alae nasi, large low-set ears, and mandibular retrognathia....
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