Apert's Syndrome.

Area of Science:

• Medical Genetics
• Pediatric Radiology
• Clinical Dysmorphology

Background:

• Apert syndrome is a rare genetic disorder characterized by premature fusion of skull sutures and limb abnormalities.
• Early diagnosis and understanding of its phenotypic spectrum are crucial for patient management and genetic counseling.

Observation:

• A one-year-old female presented with classic Apert syndrome features: syndactyly, acrocephaly, flat facies, exophthalmos, hypertelorism, and greasy skin.
• Radiological examination revealed typical features alongside previously unreported findings.
• Specific novel observations included thickened, forked first metacarpals and intracranial calcification.

Findings:

• The patient exhibited bilateral syndactyly of fingers and toes, craniosynostosis resulting in an acrocephalic skull, and midface hypoplasia.
• Unique radiological findings included bilateral thickening and forking of the first metacarpals and the presence of two phalanges per toe.
• Intracranial calcification was also noted, representing a potentially new radiological marker for the syndrome.

Implications:

• These novel radiological findings expand the known spectrum of Apert syndrome manifestations.
• The identification of these features may aid in more precise diagnosis and differential diagnosis of similar craniofacial and limb anomalies.
• Further research into the genetic and developmental basis of these specific radiological findings is warranted.