Skeletal dysplasia, broad short thumbs, and pectoral and sternal deformities. Assess vertebral anomalies by radiologic examination of spine. Spina bifida occulta may be present.
Acropectorovertebral Dysplasia; Opitz Frias Syndrome.
The incidence remains unknown. Fewer than 25 cases reported in the literature.
It is believed to be inherited as autosomal dominant.
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.
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.
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.
B: The Opitz-Frias syndrome, in Roizen
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et al: F-Syndrome (F-form of acropectorovertebral dysplasia): Report on a second family. Am J Med Genet
et al: A novel acropectoral syndrome maps to chromosome 7q36. J Med Genet
JM: The F-form of acropectorovertebral dysplasia: The F-syndrome. Birth Defects Orig Artic Ser 3:48, 1969.