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Related Experiment Videos

Achondrogenesis type II with polydactyly

M Rittler1, I M Orioli

  • 1Sección Genética Médica, Hospital Maternoinfantil Ramón Sardá, Buenos Aires, Argentina.

American Journal of Medical Genetics
|November 6, 1995
PubMed
Summary
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A newborn with achondrogenesis type II (Langer-Saldino) also had polydactyly and microtia. This case suggests polydactyly may be linked to contiguous gene syndromes in achondrogenesis.

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Developmental Biology

Background:

  • Achondrogenesis type II (Langer-Saldino) is a severe skeletal dysplasia characterized by deficient ossification.
  • Genetic factors are crucial in the etiology of skeletal dysplasias.
  • Polydactyly is a common congenital anomaly, often associated with various genetic syndromes.

Observation:

  • A newborn male infant presented with classic features of achondrogenesis type II (Langer-Saldino).
  • The infant exhibited additional anomalies: postaxial polydactyly of both feet and bilateral microtia.
  • These polydactyly and microtia findings are not typically associated with achondrogenesis type II.

Findings:

  • The co-occurrence of achondrogenesis type II, polydactyly, and microtia in this infant is a novel observation.

Related Experiment Videos

  • Polydactyly is a known feature of other skeletal disorders, such as short-rib polydactyly syndromes.
  • This case expands the phenotypic spectrum associated with achondrogenesis type II.

    • Implications:

    • The findings challenge the current understanding of achondrogenesis type II phenotype.
    • This case supports the hypothesis that polydactyly in this context may result from a contiguous gene syndrome.
    • Further research into genetic mechanisms is warranted to elucidate the relationship between these anomalies.