++
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]