82 Poland Syndrome
Poland anomaly
Unilateral hypoplasia of anterior chest wall, hypoplas- tic/absent nipple, symbrachydactyly
Frequency: 1 in 30,000–50,000 births.
Genetics
Most cases sporadic, possibly resulting from inter- ruption of early embryonic blood supply in sub- clavian arteries; very occasionally familial (OMIM 173800).
Clinical Features
• Unilateral aplasia of sternal head of pectoralis ma- jor, serratus anterior, latissimus dorsi muscles
• Unilateral absence or hypoplasia of nipple and areola
• Ipsilateral limb defects, small hand, brachydactyly, syndactyly, terminal symphalangism (symbrachy- dactyly)
• Patchy absence of axillary hair
• Chest wall defects
• Dextrocardia Differential Diagnosis
• Ipsilateral aplasia of lung and hemidiaphragm (extreme expression?)
• Aglossia-adactylia
• Ulnar-mammary syndromes
• Other syndromes with absence of pectoralis mus- cles
Radiographic Features Chest
• Unilateral increase in thoracic radiolucency due to pectoralis muscle absence/hypoplasia
• Rib deformities
• Hypoplastic, highly positioned scapula
• Sternal anomalies Extremities
• Hypoplasia of ipsilateral arm Hands and Feet
• Ipsilateral hypoplasia of hand,absence/hypoplasia of metacarpals and phalanges (especially middle phalanges; distal phalanges are nearly normal in most cases)
• Syndactyly
Pelvis
• Hip dislocation Spine
• Scoliosis, vertebral anomalies
Bibliography
Bouwes Bavinck JN, Weaver DD. Subclavian artery supply dis- ruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebious anomalies. Am J Med Genet 1986; 23: 903–18
Clarkson P. Poland’s syndactyly. Guys Hosp Rep 1962; 111:
335–46
Cohen A, Zecca S, Dassori A, Pelegrini M, Parodi L, Romano C.
Poland sequence in two siblings suggesting an autosomal inheritance transmission. Clin Genet 1996; 50: 93–5 Poland Syndrome
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Fig. 82.1. Patient 1, age 4 months. Unilateral (left) aplasia of pectoralis major, resulting in asymmetrical thorax. (Reprinted, with permission, from Mastroiacovo et al. 1990)
Hoyme HE, Der Kaloustian VM, Hogg H, Entin MA, Guttmach- er AE. Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an addi- tional clinical observation. Am J Med Genet 1992; 42: 398–9 Ireland DC, Takayama N, Flatt AE. Poland’s syndrome: a review
of forty-three cases. J Bone Joint Surg Am 1976; 58: 52–8 Mastroiacovo P, Dallapiccola B,Andria G, Camera G, Lungarot-
ti MS. Difetti congeniti e sindromi malformative. McGraw- Hill, Milan, 1990
Parker DL, Mitchell PR, Holmes GL. Poland-Möbius syn- drome. J Med Genet 1981; 18: 317–20
Suzuki T, Takazawa H, Koshino T. Computed tomography of the pectoralis muscles in Poland’s syndrome. Hand 1983;
15: 35–41
Poland Syndrome 831
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Fig. 82.2. Patient 2, 4 years. Note increased lucency of the left hemithorax due to aplasia of the pectoral muscles; elevation of the scapula; mild rib deformity; and dextrocardia
Fig. 82.3. Patient 2, age 4 years.
Note overall hypoplasia and re- tarded maturation of the left hand, brachydactyly, severely hy- poplastic/absent middle pha- langes, clinodactyly of fingers 4 and 5, and partial syndactyly be- tween fingers 2–4
