# Characteristics of Craniofacial Morphology and Occlusion in Shwachman–Diamond Syndrome: A Case Report of a Japanese Sibling Pair

## TL;DR

This case report describes the craniofacial and dental characteristics of two Japanese siblings with Shwachman-Diamond syndrome.

## Contribution

The study provides the first detailed analysis of craniofacial morphology and dental features in patients with Shwachman-Diamond syndrome.

## Key findings

- Both patients exhibited skeletal class I malocclusion with a hypodivergent pattern.
- Delayed permanent tooth eruption and replacement were observed in both siblings.
- Labial inclination of maxillary and mandibular incisors was a notable feature.

## Abstract

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder mainly caused by mutations in the Shwachman-Bodian-Diamond syndrome gene on chromosome 7q11. Although skeletal abnormalities are a feature of SDS, no reports have focused on the craniofacial morphology of patients with SDS. Moreover, the detailed dental characteristics of SDS remain unknown. In the present case report, we evaluated the craniofacial morphology and dental findings of two patients with SDS. A Japanese adolescent sibling pair with SDS had the chief complaint of excessive overjet. Cephalometric analysis revealed similar craniofacial morphology in both patients: skeletal class I malocclusion with a hypodivergent pattern and labial inclination of the maxillary and mandibular incisors. A panoramic photograph showed the tendency of delayed permanent tooth eruption and replacement in both patients. These cases suggest that malocclusion requiring orthodontic treatment might be a feature of patients with SDS.