Both the Poland and the Moebius syndromes are
well-described malformations. The Moebius syndrome is characterized by
multiple cranial nerve palsies, orofacial malformations, and limb anomalies.
The Poland syndrome consists of unilateral symbrachydactyly and ipsilateral
aplasia of the sternal head of the pectoralis major muscle. The association
probably represents a formal genesis malformation syndrome of unknown
Moebius syndrome, anomalies first described by Henry Thomas in
1898. The Poland disorder was first described by Sir Alfred Poland in 1841.
1:32,000 to 1:87,550 live births for Poland syndrome.
Most patients with Poland syndrome are the result of mutation or
sporadic with rarely familial (autosomal dominant) reports. Moebius syndrome
is inherited as an autosomal dominant trait with the gene map locus localized to
13q12.2-q13. Alternately, all three genetic conditions may belong to the spectrum of
the same syndrome; perhaps both syndromes are expressions of the same gene.
Poland syndrome and Moebius syndrome are each the
result of interruption of the early embryonic blood supply in the subclavian
arteries, the vertebral arteries and/or their branches. The term subclavian
artery supply disruption sequence (SASDS) was suggested for this group of
The Poland syndrome consists of usually unilateral
absence of the pectoralis muscle, syndactyly, brachydactyly, and hypoplasia
of the hand. Absence of ribs may result in paradoxical chest wall movement.
Classically, lung herniation through the chest defect may be seen during
crying or a Valsalva maneuver. Patients with Moebius syndrome are usually
diagnosed soon after birth because of incomplete closure of eyelids during
sleep, drooling, and difficulties in sucking. A “mask-like facies” is
present, with the child not smiling or moving its facial muscles on crying.
Moebius syndrome consists of bilateral palsies of cranial nerves VI and VII,
but occasionally also cranial nerves V, X, XI, and XII, resulting in
difficulties with chewing, swallowing, and coughing, often leading to
aspiration with respiratory complications. Arthrogryposis, limb
deficiencies, contractures of the fingers, and strabismus may also occur
with this condition.
Patients with Poland syndrome do not often have
any functional disability and can present either for diagnostic radiological
procedures or for cosmetic breast reconstructive surgery. Associated
anomalies may include cardiovascular (dextrocardia, atrial septal defect),
musculoskeletal (scoliosis), genitourinary (renal aplasia, hypospadias,
inguinal hernia), gastrointestinal (extension of liver through chest), and
hematological (lymphoma, leukemia). Patients with Moebius syndrome have
congenital paralysis of the sixth and seventh cranial nerves, resulting in
esotropia and facial paralysis. Occasionally, cranial nerves V, X, XI, and
XII are also involved, resulting in chewing, swallowing, and coughing, and
repeated aspiration with respiratory complications. Patients with Moebius
syndrome have a high incidence of other anomalies, including congenital
cardiac disease, spinal anomalies, corneal abrasions, and peripheral
neuropathies, and a careful preoperative assessment is essential. Affected
children most commonly present for anesthesia for correction of strabismus,
or for orthopedic procedures to improve limb function.
The presence of associated anomalies
should be determined in ...