Rare Diseases Symptoms Automatic Extraction

Age at initial consultation for craniosynostosis: comparison across different patient characteristics.

[achondroplasia]

The severity and dysmorphology that results from the premature fusion of one or more cranial sutures is not uniform. Less striking phenotypes may be more easily missed on routine screening, possibly leading to delayed diagnosis and treatment. The purpose of this study was to compare the age at initial presentation for the different forms of craniosynostosis.The authors reviewed the records of all patients who underwent open craniofacial repair of craniosynostosis at a single institution from 1996 to 2009. Relationships between type of suture fusion and age at initial consultation were compared.Two hundred eleven patients (136 males, 75 females) were identified. Indications included sagittal (n = 96), metopic (n = 39), unicoronal (n = 33), bicoronal (n = 24), multisutural (n = 15), bilambdoidal (n = 3), and unilambdoidal (n = 1) synostoses. Seventeen patients (8.1%) had a craniosynostosis syndrome and 5 (2.4%) had a syndrome or disorder not typically associated with craniosynostosis [X-linked hypophosphatemic rickets (n = 3), achondroplasia (n = 1), and Beckwith Wiedemann (n = 1)]. Median age at initial consultation was 4.1 months; there was no gender difference. Patients with X-linked hypophosphatemic rickets presented at a significantly older age than nonsyndromic patients or those with a known craniosynostosis syndrome. Those with multisutural synostosis presented at a significantly older age than patients with sagittal or bicoronal synostosis.Patients with multisutural involvement or X-linked hypophosphatemic rickets had a significant delay in presentation for craniosynostosis. The latter group of patients may especially benefit from routine surveillance for craniosynostosis given their advanced age at diagnosis.

Diseases presenting "open craniofacial repair" symptom

  • achondroplasia

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