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Costello syndrome.

V M Der Kaloustian1, B Moroz, N McIntosh

  • 1Division of Medical Genetics, McGill University School of Medicine, Montreal, Quebec, Canada.

American Journal of Medical Genetics
|October 1, 1991
PubMed
Summary
This summary is machine-generated.

Costello syndrome is a rare genetic disorder characterized by short stature, distinctive facial features, and developmental delays. This case report details a third patient, expanding understanding of the condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Costello syndrome, first described in 1971, is a rare genetic disorder.
  • It is characterized by a distinct set of clinical manifestations affecting multiple organ systems.

Observation:

  • A third patient with Costello syndrome is presented.
  • Detailed clinical findings of the patient are reviewed.

Findings:

  • Key features include short stature, redundant skin, curly hair, relative macrocephaly, depressed nasal bridge, oral papillomata, and hyperextensible joints.
  • Mental retardation is also a common finding in Costello syndrome.

Implications:

  • This case adds to the existing literature on Costello syndrome.
  • Further understanding of the syndrome's manifestations and potential management strategies is facilitated.