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At a glance

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 hypoplasia or aplasia of the chest wall muscles (mainly pectoralis major), mammary gland, ribs and cutaneous syndactyly of the ipsilateral hand. There is a 15% association between both syndromes.

History

Moebius Syndrome, anomalies first described by Henry Thomas in 1898. The Poland disorder was first described by Sir Alfred Poland in 1841.

Incidence

1:30,000 to 80,000 live births for Poland Syndrome. Moebius Syndrome is a sporadic occurrence in an otherwise normal family and affects approximately 1:50,000 live births.

Genetic inheritance

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.

Pathophysiology

Poland Syndrome and Moebius Syndrome are each likely to be the result of interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches. Prenatal exposure to potential teratogens (cocaine, misoprostol, or smoking) may interfere with vascular development during that period. The term subclavian artery supply disruption sequence (SASDS) was suggested for this group of birth defects.

Diagnosis

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 “masklike 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.

Clinical aspects

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 ...

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