Very rare X-linked syndrome with radial aplasia,
anogenital anomalies, and sometimes hydrocephalus.
Radial Aplasia and Anogenital Anomalies.
Very rare. X-linked genetic
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
Gibson CC, Genest DR, Bieber FR, et al: X-linked phenotype of absent
radius and anogenital anomalies. Am J Med Genet