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Mandibular Distraction Osteogenesis in Monozygotic Twins With Structural-Dominant ALG8 Variants.

Xingyu Xia1, Shigui Lu, Jinlong Zou

  • 1Department of Burn and Plastic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China.

The Journal of Craniofacial Surgery
|May 11, 2026
PubMed
Summary
This summary is machine-generated.

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This study details rare ALG8 gene mutations causing Pierre Robin sequence and orofacial-digital features in twins. Mandibular distraction osteogenesis proved a safe, life-saving treatment for airway obstruction in this unique genetic disorder.

Area of Science:

  • Genetics
  • Developmental Biology
  • Metabolic Disorders

Background:

  • Biallelic ALG8 mutations usually cause lethal congenital disorders of glycosylation (CDG-Ih).
  • Congenital disorders of glycosylation are a group of rare genetic diseases affecting multiple body systems.

Purpose of the Study:

  • To report a unique case of monozygotic twins with ALG8 mutations presenting with Pierre Robin sequence and orofacial-digital-like features.
  • To highlight the successful management of severe airway obstruction using mandibular distraction osteogenesis in this complex genetic background.

Main Methods:

  • Whole-exome sequencing to identify compound heterozygous variants in the ALG8 gene.
  • Clinical assessment and surgical intervention (mandibular distraction osteogenesis) for airway management.
Keywords:
ALG8Pierre Robin sequencecongenital disorders of glycosylationmandibular distraction osteogenesis

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Last Updated: May 12, 2026

A Mouse Distraction Osteogenesis Model
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Main Results:

  • Identified compound heterozygous ALG8 variants (c.140C>T and c.1349+1G>A) in monozygotic twins.
  • Successful management of severe airway obstruction and respiratory weaning via bilateral mandibular distraction osteogenesis.
  • Achieved complete respiratory weaning and enabled oral feeding post-intervention.

Conclusions:

  • Specific ALG8 defects can present as a structural-dominant "metabolic ciliopathy," expanding the known phenotypic spectrum of CDG.
  • Mandibular distraction osteogenesis is a safe and effective life-saving intervention for complex genetic-metabolic conditions, even with theoretical risks.