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Very rare X-linked syndrome with radial aplasia, anogenital anomalies, and sometimes hydrocephalus.

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Radial Aplasia and Anogenital Anomalies.

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Very rare. X-linked genetic inheritance.

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Radial aplasia with normal legs, hydrocephalus, hypospadias, imperforate anus.

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Perioperative positioning must prevent extrinsic compression of upper limb arteries. Avoid radial artery catheterization. Evaluate neurological status.

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Radial aplasia can be observed in many syndromes, including the following:

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Wilms Tumor Radial Bilateral Aplasia Nephroblastoma: Metacarpal anomalies, radius absent or abnormal lower limb deficiency, terminal hypoplasia fingers, and chromosomal rearrangement.

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Baller-Gerold Syndrome: Autosomal recessive, characterized by short stature, absent or hypoplastic radii, craniosynostosis, congenital cardiopathy, and various other anomalies such as turribrachycephaly, low-set, posteriorly rotated ears with conductive hearing loss; down-slanting palpebral fissures and epicanthal folds. Other features include hypertelorism; microstomia; perineal fistula; anteriorly placed anus; imperforate anus; renal anomalies; rectovaginal fistula; vertebral anomalies; fused carpal bones; mental retardation; absent or hypoplastic thumbs; absent carpals; metacarpals; and phalanges.

Gibson CC, Genest DR, Bieber FR, et al: X-linked phenotype of absent radius and anogenital anomalies. Am J Med Genet 45:743, 1993.  [PubMed: 8456854]

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