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

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Acropectorovertebral Dysplasia; Opitz F Syndrome.

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Autosomal dominant. Fewer than 15 cases reported in the literature.

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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. Vertebral anomalies and spina bifida occulta at L5 or S1.

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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.

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No specific pharmacological implications.

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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.

Grosse F, Herrmann J, Opitz JM: The F-form of acropectorovertebral dysplasia: The F-syndrome. Birth Defects Orig Artic Ser 3:48, 1969.
Dundar M, Gordon TM, Ozyasgan I, et al: A novel acropectoral syndrome maps to chromosome 7q36. J Med Genet 38: 304, 2001.  [PubMed: 11333865]
Camera G, Camera A, Pozzolo S, et al: F-Syndrome (F-form of acropectoro-vertebral dysplasia): Report on a second family. Am J Med Genet 57:472, 1995.  [PubMed: 7677153]

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