[Craniometaphyseal dysplasia. Description of a clinical case]

Area of Science:

• Pediatric Endocrinology
• Medical Genetics
• Skeletal Dysplasias

Background:

• Craniometaphyseal dysplasia (CMD) is a rare autosomal dominant disorder characterized by progressive obliteration of the cranial sutures and facial bone hypoplasia.
• CMD is associated with significant morbidity, including hearing loss, vision impairment, and dental abnormalities.

Observation:

• A 1 year and five month-old male infant presented with features suggestive of a skeletal dysplasia.
• Clinical examinations revealed the infant's weight and height were both greater than the 97th percentile for age and sex.

Findings:

• The infant was diagnosed with craniometaphyseal dysplasia.
• The significant overgrowth, indicated by weight and height exceeding the 97th percentile, is an atypical presentation for CMD, which is often associated with growth disturbances.

Implications:

• This case highlights the phenotypic variability of craniometaphyseal dysplasia, particularly concerning growth patterns.
• Further research is needed to understand the genetic and molecular mechanisms underlying atypical presentations of CMD.
• Early recognition and comprehensive management are crucial for optimizing outcomes in affected children.