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Related Experiment Videos

The carpenter syndrome phenotype.

Erkan Tarhan1, Haldun Oğuz, Mustafa Asim Safak

  • 1Ministry of Health, Ankara Training and Research Hospital, Clinic of Otolaryngology, Ankara, Turkey.

International Journal of Pediatric Otorhinolaryngology
|May 8, 2004
PubMed
Summary

Carpenter syndrome, a rare genetic disorder, typically involves multiple malformations. This case highlights a unique presentation including bilateral sensorineural hearing loss, diagnosed via auditory brainstem response testing.

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Area of Science:

  • Medical Genetics
  • Pediatrics
  • Otolaryngology

Background:

  • Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare genetic disorder characterized by a distinct set of congenital anomalies.
  • Key features include craniosynostosis (acrocephaly), limb malformations (syndactyly, polydactyly), and other systemic issues like congenital heart disease and developmental delay.

Observation:

  • A 6-year-old boy presented with a comprehensive set of Carpenter syndrome malformations.
  • Notably, the patient also exhibited bilateral sensorineural hearing loss, an auditory disturbance not commonly associated with this syndrome.

Findings:

  • This report details the first documented case of Carpenter syndrome where hearing loss was specifically evaluated and confirmed using auditory brainstem response (ABR) testing.
  • The ABR results provided objective evidence of sensorineural hearing impairment in the affected child.

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Implications:

  • The inclusion of auditory disturbances in Carpenter syndrome broadens the phenotypic spectrum of this rare condition.
  • This case underscores the importance of audiological evaluations in patients with Carpenter syndrome to ensure early detection and management of hearing loss.
  • Further research into the genetic and molecular underpinnings may elucidate the association between Carpenter syndrome and hearing impairment.