Further delineation of achondroplasia-hypochondroplasia complex with long-term survival

Area of Science:

• Genetics
• Molecular Biology
• Medical Genetics

Background:

• Achondroplasia-hypochondroplasia (ACH-HCH) complex is a rare genetic disorder.
• It arises from compound heterozygous pathogenic variants in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene.
• Previously, only four cases with confirmed molecular diagnoses had been reported, leaving the phenotype incompletely defined.

Observation:

• This study reports on a Mexican patient with a confirmed molecular diagnosis of ACH-HCH complex.
• The patient presented with intellectual disability, a history of seizures, and significant cardiorespiratory issues in early childhood.
• Surgical intervention, foramen magnum decompression, was required.

Findings:

• Despite severe early complications, the patient has achieved long-term survival and is currently 18 years old.
• The patient exhibits a stable health condition at 18 years of age.
• This case expands the known clinical spectrum of ACH-HCH complex.

Implications:

• This case provides valuable insights into the clinical presentation and long-term prognosis of ACH-HCH complex.
• Findings are crucial for genetic counseling of families with achondroplasia or hypochondroplasia.
• Further research into FGFR3-related skeletal dysplasias is warranted.