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Brachydactylic multiple delta phalanges plus syndrome.

Christina P Ahn1, Ralph S Lachman, Victoria A Cox

  • 1Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, 94143-0706, USA.

American Journal of Medical Genetics. Part A
|August 11, 2005
PubMed
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This study describes a new syndrome, brachydactylic multiple delta phalanges plus syndrome, characterized by shortened fingers and toes with abnormal bone development. The condition presents with other congenital anomalies and has a complex inheritance pattern.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Orthopedics

Background:

  • Delta phalanges are rare, shortened digital bones with abnormal growth. Brachydactyly involves abnormally short digits.
  • Congenital anomalies can arise from genetic and environmental factors during development.

Observation:

  • A patient presented with multiple delta phalanges in hands and feet, a key feature of brachydactyly.
  • The patient also exhibited other congenital anomalies: butterfly vertebrae, craniofacial dysmorphism, and coarctation of the aorta.
  • The condition was observed in a patient born to consanguineous parents, suggesting a potential genetic basis.

Findings:

  • A novel multiple congenital anomaly syndrome, termed "brachydactylic multiple delta phalanges plus syndrome," was identified.

Related Experiment Videos

  • The syndrome includes brachydactyly due to multiple delta phalanges and other significant malformations.
  • Family history suggests possible variable expression of a recessive or de novo dominant inheritance pattern.

    • Implications:

    • This case expands the understanding of skeletal dysplasias and congenital anomaly syndromes.
    • Further research is needed to elucidate the genetic underpinnings and precise inheritance of this syndrome.
    • Identifying such syndromes is crucial for accurate diagnosis, genetic counseling, and management of affected individuals.