DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome.

Abstract

BACKGROUND:

Growth monitoring is an essential part of primary health care in children and short stature is frequently regarded as a relatively early sign of poor health. The association of short stature and dysmorphic features should always lead to exclude an underlying syndromic disorder.

CASE PRESENTATION:

We report the case of an Indian school-aged boy with dysmorphic features, intellectual disability and a clinical history characterized by seizures and hearing problems. Although his height was always included in the normal range for age and sex throughout childhood, he presented a short near-adult stature in relation to his mid-parent sex-adjusted target height. This is probably due to a rapidly progressive pubertal development.

CONCLUSIONS:

In the presence of characteristic dysmorphic features, intellectual disability, seizures and hearing problems, KBG syndrome should always be considered. This emergent condition presents a wide spectrum of clinical phenotypes and is often associated with adult short stature.

• Authors: Davide Mattei, Paolo Cavarzere, Rossella Gaudino, Franco Antoniazzi, Giorgio Piacentini
• Journal: Italian journal of pediatrics (Ital J Pediatr) Vol. 47 Issue 1 Pg. 15 (Jan 25 2021) ISSN: 1824-7288 [Electronic] England
• PMID: 33494799 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Body Height
• Bone Diseases, Developmental (diagnosis)
• Child
• Diagnosis, Differential
• Facies
• Hearing Loss
• Humans
• Intellectual Disability (diagnosis)
• Male
• Phenotype
• Seizures
• Tooth Abnormalities (diagnosis)