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 byPoland (1841).
Poland syndrome is most commonly a sporadic condition (David, 1982;Opitz, 1982), but familial cases have been reported.
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 byKonig 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 withMaroteaux 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; see118100) 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 byIssaivanan 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.
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) andBartoshesky 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.
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 ofStevenson et al. (1987) that neural tube defects may be produced by inadequate nutrient supply to the growing neural folds due to primary vascular abnormalities.
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.
Associations Pending Confirmation
For discussion of a possible association between Poland syndrome and variation in the PLXND1 gene, see604282.
Baban, A., Torre, M., Bianca, S., Buluggiu, A., Rossello, M. I., Calevo, M. G., Valle, M., Ravazzolo, R., Jasonni, V., Lerone, M.Poland syndrome with bilateral features: case description with review of the literature. Am. J. Med. Genet. 149A: 1597-1602, 2009. [PubMed:19533787,related citations] [Full Text]
Bartoshesky, L. E., Gans, B., Goldberg, M.Familial occurrence of malformations possibly attributable to vascular abnormalities. (Letter) J. Pediat. 109: 396, 1986. [PubMed:3016224,related citations] [Full Text]
Bouvet, J.-P., Leveque, D., Bernetieres, F., Gross, J.-J.Vascular origin of Poland syndrome? A comparative rheographic study of vascularisation of the arms of eight patients. Europ. J. Pediat. 128: 17-26, 1978. [PubMed:208850,related citations] [Full Text]
Bouwes Bavinck, J. N., Weaver, D. D.Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebius anomalies. Am. J. Med. Genet. 23: 903-918, 1986. [PubMed:3008556,related citations] [Full Text]
Brown, J. B., McDowell, F.Syndactylism with absence of the pectoralis major. Surgery 7: 599-601, 1940.
Castilla, E. E., Paz, J. E., Orioli, I. M.Pectoralis major muscle defect and Poland complex. Am. J. Med. Genet. 4: 263-269, 1979. [PubMed:229731,related citations] [Full Text]
Clarkson, P.Poland's syndactyly. Guys Hosp. Rep. 111: 335-346, 1962. [PubMed:14021589,related citations]
Cobben, J. M., Robinson, P. H., van Essen, A. J., van der Wiel, H. L., ten Kate, L. P.Poland anomaly in mother and daughter. Am. J. Med. Genet. 33: 519-521, 1989. [PubMed:2556920,related citations] [Full Text]
Cobben, J. M., Van Essen, A. J., McParland, P. C., Polman, H. A., ten Kate, L. P.A boy with Poland anomaly and facio-auriculo-vertebral dysplasia. Clin. Genet. 41: 105-107, 1992. [PubMed:1544210,related citations] [Full Text]
Corona-Rivera, J. R., Corona-Rivera, A., Totsuka-Sutto, S. E., Corona-Rivera, E.Corroboration of the lower extremity counterpart of the Poland sequence. Clin. Genet. 51: 257-259, 1997. [PubMed:9184248,related citations] [Full Text]
Czeizel, A., Vitez, M., Lenz, W.Birth prevalence of Poland sequence and proportion of its familial cases. (Letter) Am. J. Med. Genet. 36: 524, 1990. [PubMed:2167612,related citations] [Full Text]
David, T. J., Saad, M. N.Dermatoglyphic diagnosis of the Poland anomaly in the absence of syndactyly. Hum. Hered. 24: 373-378, 1974. [PubMed:4461661,related citations] [Full Text]
David, T. J., Winter, R. M.Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. J. Med. Genet. 22: 390-392, 1985. [PubMed:4078869,related citations] [Full Text]
David, T. J.Nature and etiology of the Poland anomaly. New Eng. J. Med. 287: 487-489, 1972. [PubMed:4340236,related citations] [Full Text]
David, T. J.Familial Poland anomaly. J. Med. Genet. 19: 293-296, 1982. [PubMed:6288948,related citations] [Full Text]
Der Kaloustian, V. M., Hoyme, H. E., Hogg, H., Entin, M. A., Guttmacher, A. E.Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. Am. J. Med. Genet. 38: 69-73, 1991. [PubMed:2012136,related citations] [Full Text]
Erol, M., Caksen, H., Tan, O., Atik, B., Unal, O., Odabas, D.Report of a girl with Klippel-Feil syndrome and Poland anomaly. Genet. Counsel. 15: 469-472, 2004. [PubMed:15658624,related citations]
Fraser, F. C., Ronen, G. M., O'Leary, E.Pectoralis major defect and Poland sequence in second cousins: extension of the Poland sequence spectrum. Am. J. Med. Genet. 33: 468-470, 1989. [PubMed:2556919,related citations] [Full Text]
Fuhrmann, W., Mosseler, U., Neuss, H.Zur Klinik und Genetik des Poland-Syndroms. Dtsch. Med. Wschr. 96: 1076-1078, 1971. [PubMed:4325991,related citations] [Full Text]
Fuhrmann, W.Personal Communication. Giessen, Germany 1972.
Gadoth, N., Biedner, B., Torok, G.Moebius syndrome and Poland anomaly: case report and review of the literature. J. Pediat. Ophthal. Strabismus 16: 374-376, 1979. [PubMed:521879,related citations] [Full Text]
Gross-Kieselstein, E., Shalev, R. S.Familial absence of the trapezius muscle with associated shoulder girdle abnormalities. Clin. Genet. 32: 145-147, 1987. [PubMed:3621659,related citations] [Full Text]
Hegde, H. R., Shokeir, M. H. K.Posterior shoulder girdle abnormalities with absence of pectoralis major muscle. Am. J. Med. Genet. 13: 285-293, 1982. [PubMed:7180874,related citations] [Full Text]
Hennekam, R. C. M., Hofstee, N.Familial liability to intrauterine vascular impairments. (Letter) Pediatrics 86: 326-327, 1990. [PubMed:2164658,related citations]
Hester, T. R., Bostwick, J.Poland's syndrome: correction with latissimus muscle transposition. Plast. Reconst. Surg. 69: 226-233, 1982. [PubMed:7054791,related citations]
Ireland, D. C. R., Takayama, N., Flatt, A. E.Poland's syndrome: a review of forty-three cases. J. Bone Joint Surg. Am. 58: 52-58, 1976. [PubMed:175070,related citations]
Issaivanan, M., Virdi, V. S., Parmar, V. R.Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. Indian J. Pediat. 69: 441-442, 2002. [PubMed:12061681,related citations] [Full Text]
Karnak, I., Tanyel, F. C., Tuncbilek, E., Unsal, M., Buyukpamukcu, N.Bilateral Poland anomaly. Am. J. Med. Genet. 75: 505-507, 1998. [PubMed:9489794,related citations] [Full Text]
Konig, R., Lenz, W.Pektoralis-Handdefekte (Poland-Syndaktylia). Z. Orthop. 121: 244-253, 1983. [PubMed:6310906,related citations] [Full Text]
Maroteaux, P., Le Merrer, M.Bilateral Poland anomaly versus thoracic dysplasia. (Letter) Am. J. Med. Genet. 80: 538 only, 1998. [PubMed:9880227,related citations] [Full Text]
McDowell, F.On the propagation, perpetuation, and parroting of erroneous eponyms such as 'Poland's syndrome'. Plast. Reconst. Surg. 59: 561-562, 1977. [PubMed:191860,related citations]
McGillivray, B. C., Lowry, R. B.Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. Am. J. Med. Genet. 1: 65-74, 1977. [PubMed:205132,related citations] [Full Text]
Opitz, J. M.Personal Communication. Helena, Mont. 1982.
Parano, E., Falsaperla, R., Pavone, V., Toscano, A., Bolan, E. A., Trifiletti, R. R.Intrafamilial phenotypic heterogeneity of the Poland complex: a case report. Neuropediatrics 26: 217-219, 1995. [PubMed:8544963,related citations] [Full Text]
Parker, D. L., Mitchell, P. R., Holmes, G. L.Poland-Moebius syndrome. J. Med. Genet. 18: 317-320, 1981. [PubMed:7024548,related citations] [Full Text]
Poland, A.Deficiency of the pectoral muscle. Guys Hosp. Rep. 6: 191, 1841.
Ravitch, M. M.Poland's syndrome--a study of an eponym. Plast. Reconst. Surg. 59: 508-512, 1977. [PubMed:191859,related citations]
Riccardi, V. M.Unilateral gluteal hypoplasia and brachysyndactyly: lower extremity counterpart of the Poland anomaly. Pediatrics 61: 653-654, 1978. [PubMed:208046,related citations]
Seligsohn, U.Personal Communication. Tel-Aviv, Israel 6/13/1990.
Shipkov, C. D., Anastassov, Y. K.Bilateral Poland anomaly: does it exist? (Letter) Am. J. Med. Genet. 118A: 101 only, 2003. [PubMed:12605453,related citations] [Full Text]
Soltan, H. C., Holmes, L. B.Familial occurrence of malformations possibly attributable to vascular abnormalities. J. Pediat. 108: 112-114, 1986. [PubMed:3944675,related citations] [Full Text]
Stevenson, R. E., Kelly, J. C., Aylsworth, A. S., Phelan, M. C.Vascular basis for neural tube defects: a hypothesis. Pediatrics 80: 102-106, 1987. [PubMed:3601504,related citations]
Stevenson, R. E.The Poland-Moebius syndrome. Proc. Greenwood Genet. Center 1: 26-28, 1982.
Sujansky, E., Riccardi, V. M., Matthew, A. L.The familial occurrence of Poland syndrome. Birth Defects Orig. Art. Ser. XIII(3A): 117-121, 1977. [PubMed:195646,related citations]
Suzuki, T., Takazawa, H., Koshino, T.Computed tomography of the pectoralis muscles in Poland's syndrome. Hand 15: 35-41, 1983. [PubMed:6303919,related citations] [Full Text]
Trier, W. C.Complete breast absence: case report and review of the literature. Plast. Reconst. Surg. 36: 431-439, 1965. [PubMed:5319112,related citations]
Verzijl, H. T. F. M., van der Zwaag, B., Cruysberg, J. R. M., Padberg, G. W.Moebius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 61: 327-333, 2003. [PubMed:12913192,related citations] [Full Text]
Alternative titles; symbols
Other entities represented in this entry:
SNOMEDCT: 38371006; ICD10CM: Q79.8; ORPHA: 2911; DO: 12961;
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.
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.
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.
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.
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.
Associations Pending Confirmation
For discussion of a possible association between Poland syndrome and variation in the PLXND1 gene, see 604282.
Baban, A., Torre, M., Bianca, S., Buluggiu, A., Rossello, M. I., Calevo, M. G., Valle, M., Ravazzolo, R., Jasonni, V., Lerone, M.Poland syndrome with bilateral features: case description with review of the literature. Am. J. Med. Genet. 149A: 1597-1602, 2009. [PubMed: 19533787] [Full Text: https://doi.org/10.1002/ajmg.a.32922]
Bartoshesky, L. E., Gans, B., Goldberg, M.Familial occurrence of malformations possibly attributable to vascular abnormalities. (Letter) J. Pediat. 109: 396, 1986. [PubMed: 3016224] [Full Text: https://doi.org/10.1016/s0022-3476(86)80426-7]
Bouvet, J.-P., Leveque, D., Bernetieres, F., Gross, J.-J.Vascular origin of Poland syndrome? A comparative rheographic study of vascularisation of the arms of eight patients. Europ. J. Pediat. 128: 17-26, 1978. [PubMed: 208850] [Full Text: https://doi.org/10.1007/BF00496922]
Bouwes Bavinck, J. N., Weaver, D. D.Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebius anomalies. Am. J. Med. Genet. 23: 903-918, 1986. [PubMed: 3008556] [Full Text: https://doi.org/10.1002/ajmg.1320230405]
Brown, J. B., McDowell, F.Syndactylism with absence of the pectoralis major. Surgery 7: 599-601, 1940.
Castilla, E. E., Paz, J. E., Orioli, I. M.Pectoralis major muscle defect and Poland complex. Am. J. Med. Genet. 4: 263-269, 1979. [PubMed: 229731] [Full Text: https://doi.org/10.1002/ajmg.1320040309]
Clarkson, P.Poland's syndactyly. Guys Hosp. Rep. 111: 335-346, 1962. [PubMed: 14021589]
Cobben, J. M., Robinson, P. H., van Essen, A. J., van der Wiel, H. L., ten Kate, L. P.Poland anomaly in mother and daughter. Am. J. Med. Genet. 33: 519-521, 1989. [PubMed: 2556920] [Full Text: https://doi.org/10.1002/ajmg.1320330423]
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