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Hand abnormalities associated with craniofacial syndromes

Zubin J Panthaki1, Milton B Armstrong

  • 1University of Miami School of Medicine, Jackson Memorial Hospital, Miami, FL 33136, USA. 2panthaki@med.miami.edu

The Journal of Craniofacial Surgery
|September 23, 2003
PubMed

Insights

Congenital upper limb anomalies affect 1 in 626 newborns, often linked with craniofacial syndromes. Shared developmental timing and gene mutations explain these associated hand anomalies in syndromes like Apert's.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Congenital upper limb anomalies occur in approximately 1 in 626 live births.
  • Craniofacial syndromes frequently present with associated hand anomalies.
  • Understanding the link between craniofacial and limb development is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the reasons behind associated hand anomalies in specific craniofacial syndromes.
  • To explore common developmental and maldevelopmental factors influencing both craniofacial and limb structures.
  • To provide clinical guidelines for pediatricians and craniofacial specialists.

Main Methods:

  • Review of developmental and maldevelopmental pathways for craniofacial and limb structures.
  • Examination of genetic mutations affecting both craniofacial and limb development.
  • Presentation of common craniofacial syndromes with upper extremity anomalies.

Main Results:

  • Common developmental timing and shared gene mutations are key factors linking craniofacial syndromes with hand anomalies.
  • Apert's, Saethre-Chotzen, Pfeiffer's, and Carpenter's syndromes exemplify this association.
  • Basic principles for surgical correction of hand anomalies are outlined for these syndromes.

Conclusions:

  • Shared genetic and developmental factors underlie the co-occurrence of craniofacial and upper limb anomalies.
  • Early recognition and understanding of these links are vital for effective patient management.
  • This overview offers essential guidance for healthcare professionals managing affected children.

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