Classification of hand anomalies in Poland's syndrome
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1 British Journal of Plastic Surgery ( ), 54, The British Association of Plastic Surgeons doi:.54/bjps..355 PLASTIC SURGERY M. M. A-Qattan Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia SUMMARY. Poland's syndrome classically consists of the combination of unilateral aplasia of the sternocostal head of the pectoralis major muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. However, patients with Poland's syndrome may have a broad range of hand anomalies. In this paper, the author reviews cases of Poland's syndrome and offers a classification of the hand anomalies. The hand anomalies are divided into seven types according to the severity of the deformity. Clinical cases are presented along with similar cases from the literature. The aetiology of Poland's syndrome is discussed and the various malformations that may co-exist with this syndrome are reviewed. 9 The British Association of Plastic Surgeons Keywords: Poland's syndrome, hand anomaly, syndactyly, hypoplastic digits. Poland's syndrome was first described by Alfred Poland over 5 years ago and classically consists of the combination of unilateral aplasia of the sternocostal head of the pectoralis major muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. In 984, Gausewitz et al brought to the attention of hand surgeons the fact that patients with Poland's syndrome may have a broad range of hand anomalies, and they classified these anomalies into four types? type, five digits present even if hypoplastic; type, functional border digits with the absence of central digits; type 3, more severe absence deformities with no functional digits; and type 4, radial ray defects with absent thumb. Since 984, other cases of Poland's syndrome have been reported with an even wider spectrum of hand anomalies. 3-8 For example, cases with adactyly of the ulnar rays ~ and phocomelia-like deficiency ~~ cannot be fitted into Gausewitz et al's classification. Furthermore, the isolated pectoral anomaly (with a normal hand), which is well described in familial cases of Poland's syndrome, 4 is not included in their classification. Therefore, I believe that an extended classification of hand anomalies in Poland's syndrome should be offered. In this paper, cases of Poland's syndrome are reviewed and categorised using a new extended classification. Materials and methods All patients with Poland's syndrome seen by the author over the last years were reviewed. The clinical diagnosis of Poland's syndrome was based on the presence of hypoplasia or aplasia of the sternocostal head of the pectoralis major muscle. Data were collected on history, clinical hand and limb anomalies, radiographic findings, associated thoracic and systemic abnormalities and treatment. Results There were patients with Poland's syndrome; were males and eight were females. Poland's syndrome affected the right side in patients and the left side in nine patients. All family histories were negative for limb or pectoral defects. The hand anomaly was classified as shown in Table. Three adult female patients presented with hypoplasia of the sternocostal head of the pectoralis major muscle and ipsilateral breast hypoplasia and requested breast reconstruction. The hand in these three patients was normal (type ). It could be argued that isolated pectoral hypoplasia should not be considered as Poland's syndrome. This argument, however, is not valid because in familial Poland's syndrome one family member may show an isolated pectoral hypoplasia and another member may show the combined hand and pectoral deformity. 4 This clearly indicates the variable expression of the syndrome. One child presented with a form fruste (type ) hand deformity (Fig. ). The hand had no obvious clinical or radiological abnormalities but was smaller when compared to the contralateral hand. The forearm was also cm shorter than the contralateral forearm. A similar case was described by Darian et al.4 Patients with type hand anomalies have a normal hand function and require no treatment. The majority of patients (n = ) presented with the classic anomaly of brachysyndactyly (type 3). All syndactylies were simple and all patients had a degree of hand hypoplasia. This hypoplasia was mild to moderate in eight patients (Fig. ) and severe in the other two patients (Fig. 3). In this group of patients, the extent of shortening of the limb tended to be proportional to the extent of the hypoplasia of the hand. Shortening of the forearm ranged from to 4 cm and of the upper arm from to 3 cm. Another constant feature was hypoplasia or aplasia of the middle phalanges of the fingers. The degree of deficiency 3
2 Table 33 Classification o f hand anomalies in patients with Poland's syndrome Type Number of patients normal hand (isolated pectoral anomaly) A B form fruste deformity (the hand appears smaller only when compared to the contralateral side) the classic deformity (brachysyndactyly with five potentially functional rays) mild to moderate hypoplasia of the hand severe hypoplasia of the hand 8 A B C D E some functional rays still present radial club hand with floating or absent thumb adactyly of the index adactyly of the index and long fingers adactyly of the central rays creating a cleft hand adactyly of the ulnar rays all digits are functionless or absent,, 8 transverse deficiency proximal to the metacarpophalangeal joints, 5, 9 phocomelia-like deficiency 3 Selected references,,, Figure Type (form fl'uste) hand deformity. The right hand appears smaller only when compared to the contralateral hand. Figure --Type 3A anomaly showing mild to moderate hypoplasia of the hand. The syndactyly of the second, third and fourth web spaces has been released. The discoloration of the fingers is from traditional 'henna'. in the middle phalanx was proportional to the extent of shortening of the finger (Fig. 4). The latter observation has not been mentioned in any of the previous papers in the literature? -8 In severe cases the middle phalanx is Figure 3--Type 3B anomaly. (A) Brachysyndactyly and severe hypoplasia of the hand. (B) Radiograph showing aplasia of the middle phalanges.
3 34 absent, leaving the finger with a single interphalangeal joint. The presence of a single interphalangeal joint in the fingers in these patients has been incorrectly referred to as symphalangism (a failure of segmentation of the mesenchymal phalangeal mass and subsequent failure of formation of the joint). I agree with Ireland et al and believe that in type 3 anomalies there is a defect in the mesenchymal phalangeal mass prior to segmentation leading to either aplasia (partial ectrodactyly) or hypoplasia (brachydactyly) of the middle phalanges. In this series, surgical treatment was given to all patients with type 3 anomalies to release the syndactyly and deepen the first web space. The postoperative functional status of the hand in this group of patients was generally good but the cosmetic appearance depended on the degree of hand hypoplasia. British Journal of Plastic Surgery In a type 4 anomaly, there is aplasia of one or more rays of the hand. Types 4A (radial club hand with floating or absent thumb) and 4D (cleft hand) are not uncommon,,,tl and will benefit from thumb reconstruction (type 4A) and deepening of the cleft for a better grasp (type 4D). However, types 4B, 4C and 4E (isolated adactyly of the index, adactyly of the index and long fingers and adactyly of the ulnar rays, respectively) are extremely rare,and require no treatment because the remaining rays ensure a reasonable hand function. In this series, one patient presented with a type 4B hand anomaly (adactyly of the index), a hypoplastic limb and an elevated scapula (Fig. 5). A cleft hand (type 4D) was seen in two patients (Fig. ). These two patients are still in early infancy and will require reconstruction in the future. All digits are functionless (usually present as small nubbins) or absent in type 5 anomalies. In this series, two patients with type 5 anomalies were seen (Fig. 7) and several authors have reported similar cases.,,8 The patients in this series were offered toe-to-hand transfers but their parents refused. The most common presentation of the type anomaly in Poland's syndrome is acheiria and this was seen in one Figure 5--Type 4B anomaly: adactyly of the index finger. Figure 4--Type 3A anomaly demonstrating that the degree of deficiency in the middle phalanx is proportional to the extent of shortening of the finger. (A) The index and middle fingers are much shorter than the two ulnar fingers, (B) Radiograph showing that the middle phalanges are aplastic in the two radial fingers and hypoplastic in the two ulnar fingers. Figure ---Type 4D anomaly: adactyly of the central rays creating a cleft hand.
4 35 pectoralis muscle in the anterior axillary fold. All adult females had breast hypoplasia. The nipple was never absent. Other associated anomalies included a delta phalanx (one patient), radioulnar synostosis (one patient), an elevated scapula (one patient), squint (one patient) and ptosis (one patient). Discussion Figure 7--Type 5 anomaly:functionlessdigits. Figure ~-Type anomaly: (A) acheiria and (B) radiograph showing radioulnar synostosis. patient in this series (Fig. 8); several other cases have been reported in the literature.,5 However, the transverse deficiency may be just distal to the wrist, leaving rudimentary metacarpals, or proximal to the wrist, as shown by Datta and Kingston) These patients are best treated with a prosthesis. The rarest and most severe hand anomaly in Poland's syndrome is type 7 (phocomelia-like deficiency) and I could only find a single case reported in the literature. ~ The thoracic deformity varied from mild hypoplasia of the sternocostal head of the pectoralis major muscle to aplasia of the pectoral, deltoid and latissimus dorsi muscles. One patient had a fibrotic band replacing the The incidence of Poland's syndrome is about in 3 live births. The syndrome is more common in males than in females and is more prevalent on the right than the left side? Most reported cases of Poland's syndrome have a negative family history, but a small number of familial cases have been reported?,5 The aetiology of Poland's syndrome is unknown. Embryologically, the pectoral mass splits by the th week of gestation into a clavicular head, which is the primordium of the clavicular head of the pectoralis major muscle, and a costal head, which is the primordium of the pectoralis minor muscle and the sternocostal head of the pectoralis major. By this time the tissues between the digits of the hand start to disappear to form the web spaces. Hence, it appears that an insult during the th week of gestation may be responsible for anomalies of the pectoralis major muscle and hand syndactyly. Most authors believe that this insult is vascular in nature because the th week of gestation is also the time of vascular differentiation from the six vascular arches to a more mature vascular pattern with distinct vertebral and subclavian arterial branches. Bavinck and Weaver suggested the term 'subclavian artery supply disruption sequence' to explain a common pathogenesis in Poland's, Klipple-Feil and Mrbius syndromes, isolated terminal transverse limb defects and the Sprengel (high scapula) anomaly. 7 According to this hypothesis, interruption of the embryonic blood supply in the subclavian or vertebral arteries will produce these variable defects depending on where the restriction of blood flow occurs. The classification offered in this paper divides hand anomalies in Poland's syndrome into seven types according to the severity of the deformity. When compared to other classifications available in the literature, this classification offers several advantages. First, it includes all types of hand anomalies in Poland's syndrome described in the literature and hence its additional complexity is worthwhile. Second, it does not ignore the fact that a significant number of patients with Poland's syndrome have a normal or near-normal hand (types and ); this has been ignored in almost all previous papers written on Poland's syndrome. Last, this classification provides a grading system with increasing severity of hand anomalies and hence may be used as a guide in the management. Patients with type i and type anomalies have normal hand function and require no treatment. The functional rays in the hands of patients with type 3 and type 4 anomalies ensure good hand function, although surgery will significantly improve function, especially in type 3 and type 4A. Patients with type 5, type or type 7 anomalies have no useful hand function. Salvage of some hand function is possible in type 5 anomalies by toe transfers; type and type 7 anomalies are best treated with a prosthesis.
5 3 British Journal of Plastic Surgery Table Malformations that may co-exist with Poland's syndrome System Malformations References craniofacial mandibular prognathism, craniofrontonasal 5,, 8,, 3-8 dysplasia, Romberg syndrome, Mtibius syndrome, Ullrich-Turner syndrome, Goldenhar syndrome, epicanthus, squint, ptosis, external ear anomalies, seizures thoracic cardiovascular gastrointestinal genitourinary spinal lower limbs skin/hair blood/lymphatic abnormalities of the ribs, clavicle and sternum, Sprengel's deformity, pectus excavatum and carinatum, thoracic teratoma, pleural fibroma, lung herniation, breast abnormalities dextrocardia, atrial septal defect, vascular malformations -4 hernia, ulcerative colitis, pyloric stenosis, liver herniation, 4,, renal agenesis, ureteral reflux, undescended testes 8, 5 scoliosis, hemivertebrae, Klippel-Feil syndrome 7, 8,, % gluteal hypoplasia, popliteal webs, club foot, toe syndactyly, 5, absent axillary hair, skin dimples, hairy naevus, Adams-Oliver syndrome (curls aplasia) 4, 5, 7 thrombocytopenia, leukaemia, lymphoma, spherocytosis, 8, 8 Finally, the hand surgeon should be aware of the various other malformations that are known to co-exist with Poland's syndrome. These are summarised in Table. After reviewing these malformations, it becomes apparent that the evaluation of a patient with Poland's syndrome should include a thorough physical exanaination, chest radiograph, renal ultrasound, complete blood count and urinalysis. References. Upton J. Congenital anomalies of the hand and forearm. In McCarthy JG, May JW, Littler JW, eds. Plastic Surgery. Philadelphia: WB Saunders, 99; Gausewitz SH, Meals RA, Setoguchi Y. Severe limb deficiency in Poland's syndrome. Clin Orthop 984; 85: Lord MJ, Lanrenzano KR, Hamnann RW Jr. Poland's syndrome. Clin Pediatr 99; 9: Darian VB, Argenta LC, Pasyk KA. Familial Poland's syndrome. Ann Plast Surg 989; 3: Rojas-Marttnez A, Garcfa-Cmz D, Rodrfguez-Garcia A, S~inchez- Corona J, Rivas E Poland-Moebius syndrome in a boy and Poland syndrome in his mother. Clin Genet 99; 4: Ireland DCR, Takayama N, Flatt AE. Poland's syndrome: a review of forty-three cases. J Bone Joint Surg 97; 58A: Bavinck JNB, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel- Fell, and M(Sbius anomalies. Am J Med Genet 98; 3: Ahmed MS, Nwoku AL. Maxillomandibular deformity in association with Poland anomaly. J Craniomaxillofac Surg 997; 5: Datta D, Kingston JE. Myoelectric prostheses in the management of Poland's syndrome: a report of two cases. J Hand Surg 994; 9B: Bamforth JS, Fabian C, Machin G, Honore L. Poland anomaly with a limb body wall disruption defect: case report and review. Am J Med Genet 99; 43: Cobben JM, van Essen AJ, McParland PC, Polman HA, ten Kate LEA boy with Poland anomaly and facio-auriculo-vertebral dysplasia. Clin Genet 99; 4: Powell CVE, Coombs RC, David TJ. Poland anomaly with contralateral ulnar ray defect. J Med Genet 993; 3: St Charles S, DiMario FJ Jr, Grunnet ML. Mrbius sequence: further in vivo support for the subclavian artery supply disruption sequence. Am J Med Genet 993; 47: Cohen A, Lavagetto A, Romano C. Ullrich-Turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major. Am J Med Genet 99; 44" Dintiman BJ, Shapiro RS, Hood AF, Guba AM. Parry-Romberg syndrome in association with contralateral Poland syndrome. J AmAcad Dermatol 99; : Erdo~an B, Akrz T, Grgti M, Kutlay R, Da~ E Possibly new multiple congenital anomaly syndrome: cranio-fronto-nasal dysplasia with Poland anomaly. Am J Med Genet 99; 5: Reardon W, Temple IK, Jones B, Baraitser M. Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? Clin Genet 99; 38: Wilson MR, Louis DS, Stevenson TR. Poland's syndrome: variable expression and associated anomalies. J Hand Surg 988; 3A: Bainbridge LC, Wright AR, Kanthan R. Computed tomography in the preoperative assessment of Poland's syndrome. Br J Plast Surg 99; 44: Francken GA, Monette R J, Czarnecki DJ, Levy SA. Localized large benign fibroma of the pleura in Poland's syndrome. A JR Am J Roentgenol 99; 59: Mahoney J, Hynes B. Concurrent Poland's syndrome and gynecomastia: a case report. Can J Surg 99; 33: Beer GM, Kompatscher P, Hergan K. Poland's syndrome and vascular malformations. Br J Plast Surg 99; 49: Fraser FC, Teen AS, Walsh S, Pinsky L. Poland sequence with dextrocardia: which comes fn'st? Am J Med Genet 997; 73: Matsui A, Nakagawa M, Okuno M. Association of atrial septal defect with Poland-Moebius syndrome: vascular disruption can be a common etiologic factor: a case report. Angiology 997; 48: Kahra M, Suri M, Jaln U, Verma IC. Poland anomaly with unusual associated anomalies: case report of an apparent disorganization defect. Am J Med Genet 994; 5: Parano E, Falsapefla R, Pavone V, Toscano A, Bolan EA, Trifiletti RR. Intrafamilial phenotypic heterogeneity of the Poland complex: a case report. Neuropediatrics 995; : Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE. Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. Am J Med Genet 99; 38: Sackey K, Odone V, George SL, Murphy SB. Poland's syndrome associated with childhood non-hodgkin's lymphoma. Am J Dis Child 984; 38: -. The Author M. M. AI-Qattan FRCSC, Associate Professor of Surgery and Consultant Plastic Surgeon King Sand University, Riyadh, Saudi Arabia. Correspondence to Professor M. M. A-Qattan, E O. Box 897, Riyadh 45, Sandi Arabia. Paper received 9 November 999. Accepted September, after revision. Published online 3 January.
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