Poland Syndrome

Description

Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841).

Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.

Clinical Features

McGillivray and Lowry (1977) ascertained 44 cases of Poland syndrome in British Columbia. There were no familial cases. There was a male predominance (27:17). All had absence of the sternal portion of the pectoralis major muscle with variable changes in the breasts and nipples. There was variable involvement of the hand and arm, with 4 patients having normal hands. Paternal age was elevated, but all 24 children of 8 affected adults were unaffected.

David and Winter (1985) reported a family in which males in 3 successive generations had unilateral absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. The authors pointed out that association of absence of other muscles around the shoulder girdle is frequent with pectoralis absence, that the associated abnormality may limit the use of the latissimus muscle in reconstructive surgery (Hester and Bostwick, 1982), and that computerized tomography may be useful in determining the presence of other abnormalities (Suzuki et al., 1983). Gross-Kieselstein and Shalev (1987) reported a Poland-like abnormality in 2 brothers. The features were congenital absence of the trapezius, pectoralis, supraspinatus, and serratus anterior muscles bilaterally. Fraser et al. (1989) suggested that isolated pectoralis major muscle defects should be included in the spectrum of anomalies characterized as the Poland sequence.

Riccardi (1978) described unilateral gluteal hypoplasia and brachysyndactyly and proposed that it was the lower limb equivalent of the Poland anomaly. In support of Riccardi's view, Parano et al. (1995) reported on an extended family in which 3 individuals, all women, had unilateral gluteal hypoplasia and the propositus in addition had unilateral hypoplasia of a pectoral muscle. Another relative in this family had unilateral symbrachydactyly of the distal phalanges of one foot. Corona-Rivera et al. (1997) reported another instance of a possible lower extremity counterpart of Poland sequence. Gluteal and lower extremity hypoplasia with ipsilateral toe brachysyndactyly was noted in a 23-year-old woman. Since no neurologic deficit was found, and electromyographic and nerve conduction studies in the affected limb were normal, they proposed a vascular origin which would involve the external iliac artery supply analogous to the disruption of the subclavian artery supply in the upper extremity Poland sequence.

Czeizel et al. (1990) reported 18 typical cases of Poland sequence; 1 case was familial. The father had absence of the left pectoralis major muscle and severe hypoplasia of the left thumb with partial syndactyly between fingers 2 and 3, while the son had mild hypoplasia of the left pectoralis major muscle, severe hypoplasia of the left thumb, and mild hypoplasia of the right thumb. Czeizel et al. (1990) suggested that the disorder in this family may represent a separate pectoralis-radial defect with dominant inheritance such as that described by Konig and Lenz (1983).

Karnak et al. (1998) described what they believed to be the first known case of bilateral Poland anomaly. A 6-year-old girl had bilateral absence of pectoralis major muscles, hypoplasia of the breasts and nipples, symmetric chest wall deformity, and bilateral hand anomaly. Shipkov and Anastassov (2003) questioned the existence of 'bilateral Poland anomaly.' They noted that 'classic Poland syndrome' is defined as a unilateral entity and that their clinical observations supported the idea that Poland syndrome is only unilateral. Shipkov and Anastassov (2003) agreed with Maroteaux and Le Merrer (1998) who had suggested the term 'thoracic dysplasia' for cases of supposed 'bilateral Poland anomaly.'

Associated Syndromes

Gadoth et al. (1979) reported a patient with Moebius syndrome (157900) and Poland anomaly. They suggested a common fetal mesodermal defect. Parker et al. (1981) reported at least 12 well-documented cases of association of Poland and Moebius syndromes. They concluded that the association represented a formal genesis malformation syndrome.

Verzijl et al. (2003) found that 4 of 37 (11%) Dutch patients with Moebius syndrome also had Poland syndrome. Features included dextrocardia, agenesis of the pectoralis muscle, aplasia of the abdominal muscles, mammary hypoplasia, agenesis of the nipple, and various hand and finger anomalies.

Der Kaloustian et al. (1991) described 2 families in which the Poland anomaly and the Adams-Oliver syndrome (100300) were coexistent. They hypothesized that the Poland anomaly and the Adams-Oliver syndrome result from the interruption of early embryonic blood supply in the subclavian arteries, and that the gene predisposing to this interruption follows an autosomal dominant pattern of inheritance.

Cobben et al. (1992) described a 3-year-old boy with features of both Poland anomaly and Goldenhar syndrome (164210).

Erol et al. (2004) reported a 7-year-old girl of Turkish origin with Klippel-Feil syndrome (KFS; see 118100) and Poland anomaly. She had the typical triad of KFS, including very short neck, low occipital hairline, and reduced bilateral neck movements. Radiographic examination showed fusion of C1 and C2 vertebrae. She also had absence of the right pectoralis muscle, hypoplastic right breast, hypoplastic costochondral junctions, and hypoplastic sternum consistent with Poland anomaly. She had no cardiac, vascular, or renal anomalies. Erol et al. (2004) noted that a child with features of KFS, Poland anomaly, and Mobius syndrome (157900) had been reported by Issaivanan et al. (2002), who postulated a disruption in the subclavian artery supply.

Baban et al. (2009) reported a 3.5-year-old girl who had bilateral asymmetric pectoral muscle defects, with complete agenesis on the left side and agenesis of the sternocostal head on the right side, nipple hypoplasia, left rib defect, and right hand symbrachydactyly. The authors reviewed previously reported cases with bilateral features and discussed etiologic hypotheses.

Inheritance

Trier (1965) found 2 instances of parent and child with Poland syndrome. Fuhrmann et al. (1971) reported a family with father-to-son transmission and referred to other cases. Later information suggested that the grandfather may also have been affected (Fuhrmann, 1972). David (1982) described 2 second cousins with typical left-sided Poland anomaly. Discounting for one or another reason the previously reported familial cases, he claimed that this was the first recorded instance of familial occurrence. Soltan and Holmes (1986) and Bartoshesky et al. (1986) observed Poland anomaly in one or more family members and unilateral terminal transverse hemimelia in others. They suggested that some 'inherited liability to a common predisposing event' was likely.

Cobben et al. (1989) described affected mother and daughter. The mother had absence of the sternocostal portion of the pectoralis major muscle, and slightly hypoplastic ipsilateral breast and areola; the daughter had symbrachydactyly as well. Fraser et al. (1989) reported a family in which a boy had unilateral absence of the pectoralis major, and his male second cousin had full Poland sequence on the left. The authors suggested autosomal dominant inheritance with reduced penetrance.

Pathogenesis

David (1972) observed a high frequency of 'potentially noxious social and physical ante-natal influence.' Of 10 patients with Poland syndrome, he found that 5 were adopted and the mothers of the other 5 had attempted abortion in early pregnancy.

Bouwes Bavinck and Weaver (1986) hypothesized that Poland syndrome, Klippel-Feil anomaly (118100), Moebius syndrome, isolated absence of pectoralis major with breast hypoplasia, isolated transverse limb defects, and Sprengel anomaly (184400) 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 birth defects. They discussed causative mechanisms such as pressure on the vessel by edema.

Fraser et al. (1989) suggested that isolated pectoralis major muscle defects should be included in the spectrum of anomalies postulated to result from disruption of blood supply in the embryonic subclavian and vertebral arteries, the site and degree of obstruction determining the sites and severity of the resulting anomalies.

Hennekam and Hofstee (1990) reported a family in which the proband had Poland syndrome. An earlier pregnancy of the mother had produced a baby girl with a large lumbar neural tube defect and congenital hydrocephaly leading to death shortly after birth, and a first cousin of the mother had hemifacial microsomia. Hennekam and Hofstee (1990) proposed that this constellation supports the hypothesis of Stevenson et al. (1987) that neural tube defects may be produced by inadequate nutrient supply to the growing neural folds due to primary vascular abnormalities.

Population Genetics

In British Columbia, McGillivray and Lowry (1977) found an incidence of Poland syndrome of 1 per 32,000 live births.

Czeizel et al. (1990) reported that in Hungary for the period 1975 to 1984 there was 1 case of full-blown Poland sequence in 87,550 births, including 12 cases with Poland sequence-type symbrachydactyly but without pectoralis major defect. The frequency came to 1 in 52,530.