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At a glance

Skeletal dysplasia, broad short thumbs, and pectoral and sternal deformities. Assess vertebral anomalies by radiologic examination of spine. Spina bifida occulta may be present.

Synonyms

Acropectorovertebral Dysplasia; Opitz Frias Syndrome.

Incidence

The incidence remains unknown. Fewer than 25 cases reported in the literature.

Genetic inheritance

It is believed to be inherited as autosomal dominant.

Clinical aspects

Skeletal dysplasia, broad short thumbs, distal thumb phalanx duplication, thumb and index finger syndactyly, fused capitate and hamate, syndactyly of toes, malformed toes. Pectoral and sternal deformities have been reported. Vertebral anomalies and spina bifida occulta at L5 or S1 are also present in this medical condition.

Anesthetic considerations

Assess vertebral anomalies by radiologic examination of spine. Because spina bifida occulta may be present, there is an increased risk of dural puncture with lumbar extradural block.

Pharmacological implications

No specific pharmacological implications.

Other condition to be considered

  • Grosse Syndrome (Cranioacrofacial Syndrome): Autosomal dominant condition characterized by cardiac anomalies (ventricular septal defect, pulmonic stenosis), narrow head and face, minor head anomalies, and Dupuytren contractures.

References

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Bissonnette  B: The Opitz-Frias syndrome, in Roizen  MF, Fleisher  LE (eds): Essence of Anesthesia Practice, 2nd ed. Philadelphia, PA, WB Saunders Company, 2001.
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Camera  G, Camera  A, Pozzolo  S,  et al: F-Syndrome (F-form of acropectorovertebral dysplasia): Report on a second family. Am J Med Genet 57:472, 1995.  [PubMed: 7677153]
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Dundar  M, Gordon  TM, Ozyasgan  I,  et al: A novel acropectoral syndrome maps to chromosome 7q36. J Med Genet 38:304, 2001.  [PubMed: 11333865]
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Grosse  F, Herrmann  J, Opitz  JM: The F-form of acropectorovertebral dysplasia: The F-syndrome. Birth Defects Orig Artic Ser 3:48, 1969.

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