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Metacarpal Small Incision for Carpal Tunnel Syndrome
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Published on: April 5, 2024

Carpenter syndrome: a case report.

S Begum1, N Khatun, S M Rayhan

  • 1Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Shahbagh, Dhaka, Bangladesh.

Mymensingh Medical Journal : MMJ
|July 26, 2012
PubMed
Summary
This summary is machine-generated.

Carpenter syndrome, a rare hereditary disorder (Acrocephalopolysyndyctyly type II), presents with distinctive features. Early diagnosis via ultrasonogram is possible, aiding in management of this autosomal recessive condition.

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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

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Published on: September 20, 2018

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Clinical Case Reports

Background:

  • Carpenter syndrome, also known as Acrocephalopolysyndyctyly type II, is a rare autosomal recessive disorder.
  • It is characterized by a constellation of congenital anomalies including craniosynostosis, facial dysmorphism, and limb malformations.

Observation:

  • A case report of a 2.5-month-old female infant born to consanguineous parents is presented.
  • The infant exhibited classic features of Carpenter syndrome, including acrocephaly with a prominent sagittal suture ridge, polydactyly, and syndactyly.

Findings:

  • Diagnosis was confirmed through a combination of patient history, clinical examination, and investigation reports.
  • Prenatal diagnosis of Carpenter syndrome is feasible using ultrasonography during pregnancy.

Implications:

  • This case highlights the importance of recognizing the phenotypic spectrum of Carpenter syndrome.
  • Early and accurate diagnosis is crucial for genetic counseling and potential prenatal diagnosis in subsequent pregnancies.
  • Further research into the genetic underpinnings and management strategies for Carpenter syndrome is warranted.