Poland Syndrome

Unilateral hypoplasia or aplasia of the chest wall muscles, mainly pectoralis major and cutaneous syndactyly of the ipsilateral hand.

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Poland Sequence; Poland Syndactyly; Poland Anomaly.

Named after Sir Alfred Poland who, in 1841, described a chest wall anomaly while still a medical student studying dissection on cadaver. His observations were reported in the Guy's Hospital Gazette. He specifically noted the absence of the sternocostal portion of the pectoralis muscle, absence of the pectoralis minor, hypoplastic serratus, but the presence of an intact clavicular origin.

Estimated in one review at 1:30,000 to 40,000 live births.

Sporadic but some cases may show autosomal dominant inheritance.

Unknown, but it has been suggested that there may be an interruption of early embryonic blood supply in the subclavian arteries, the vertebral arteries, and/or their branches, resulting in unilateral upper limb deformities and unilateral or, very rarely, bilateral chest wall deformities. The term subclavian artery supply disruption sequence (SASDS) has been suggested for a group of birth defects—Poland, Moebius, and Klippel-Feil sequences—possibly caused by it.

There may be aplasia of the sternal head of pectoralis major, of serratus anterior, and of latissimus dorsi. Unilateral symbrachydactyly may occur and there may be patchy absence of axillary hair. Unilateral breast aplasia occurs in females. Chest wall defects are variable and may include rudimentary development or absence of the anterior portions of the second to fifth ribs. Absence of bone or muscle from the chest wall may cause paradoxical respiratory movements. The anomaly may be associated with dextrocardia, atrial septal defect, contralateral syndactyly, club foot, toe syndactyly, hemivertebrae, and scoliosis. Renal aplasia, hypospadias, and inguinal hernia may also occur. Situs inversus has been reported with this syndrome.

Ensure full cardiac investigations, including echocardiography, if there is suspicion of any cardiac lesion. Chest radiograph to elucidate extent of bony defect in chest wall. Blood examination: urea, creatinine, and electrolytes if renal abnormalities are present.

Because paradoxical chest movement during spontaneous ventilation may result in inadequate ventilation, mechanical ventilation is recommended. Antibiotic prophylaxis may be required for invasive procedures in the presence of cardiac defects. Renal aplasia requires care with fluid balance and administration of renally excreted drugs.

Atracurium, cis-atracurium, or mivacurium are suitable muscle relaxants if renal aplasia exists. Suxamethonium should be avoided, especially if associated with Moebius syndrome. If there is compromised respiratory function, then care should be taken with the administration of opioids and benzodiazepines.

Poland-Moebius Syndrome: 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 association probably represents a formal genesis malformation syndrome of unknown etiology. Moebius syndrome is inherited autosomal dominantly with the gene map locus localized to 13q12.2-q13. 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.

Adams-Oliver Syndrome (AOS): A very rare inherited disorder characterized by defects of the scalp associated with multiple scarred and hairless areas that usually have dilated blood vessels directly under the skin. Scalp defects are already present at birth. The extremities are either short (hypoplastic fingers and toes) or characterized by absent hands and lower legs. Congenital heart defect must be ruled out.