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

Radial Aplasia and Anogenital Anomalies.

Very rare. X-linked genetic inheritance.

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

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

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

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

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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