Your browser does not support the NLM PubReader view.

Go to this page to see a list of supporting browsers.

J Korean Orthop Assoc. 2008 Dec;43(6):685-693. Korean.
Published online Dec 31, 2008.  https://doi.org/10.4055/jkoa.2008.43.6.685

Copyright © 2008 The Korean Orthopaedic Association

Phocomelia: The Clinical Manifestation, Classification and Surgical Treatment of Korean Patients with Phocomelia

Goo Hyun Baek, M.D., Moon Sang Chung, M.D., Young Ho Lee, M.D., Hyun Sik Gong, M.D., Seung Hwan Rhee, M.D., Ji Yeong Kim, M.D. and Suk Jae Lee, M.D.

Department of Orthopedic Surgery, Seoul National University College of Medicine, Seoul, Korea.

Address reprint requests to Goo Hyun Baek, M.D. Department of Orthopedic Surgery, Seoul National University College of Medicine, 28, Yongon-dong, Chongno-gu, Seoul 110-744, Korea. Tel: +82.2-2072-3787, Fax: +82.2-2072-2368, Email: ghbaek@snu.ac.kr

Abstract

Purpose

Phocomelia is an extremely rare congenital anomaly of the upper extremity. There have been no clinical reports about phocomlia in Korea except for five birth reports. We present here the clinical features, classifications and surgical treatments of our phocomelia cases.

Materials and Methods

From January 1993 to August 2007, seven patients were diagnosed as having phocomelia in 9 upper extremities at our clinic. Surgical treatments were performed for five patients on their hand anomalies. We retrospectively reviewed the medical records and radiographs of our cases, and we tried to classify them by the previously suggested systems. We evaluated the functional improvement and measured the VAS scale for parental satisfaction with the operative outcomes.

Results

We could not find any problems during the fetal periods or any hereditary features. The bilaterally-affected patients also had deformities of the lower extremity, while the unilaterally-affected patients did not. We couldn't classify our cases according to the Frantz and O'Rahilly system. We found that the classifications suggested by Tytherleigh-Strong and Hooper (2003) and Goldfarb et al. (2005) could be promising alternatives for classification. One upper extremity was classified as type A, one as type B, and 7 as type C by Tytherleigh-Strong and Hooper's system. Using the Goldfarb's system, two upper extremities were classified as proximal radial longitudinal dysplasia, and seven were classified as proximal ulnar longitudinal dysplasia. Three patients who underwent pollicization showed opposition and tip pinch. Two patients who underwent syndactyly division could do lateral pinch. The VAS scale for parental satisfaction with the functional improvement averaged 8.2 postoperatively.

Conclusion

The bilateral cases had different clinical features from unilateral ones. Phocomelia could not simply be classified by the Frantz and O'Rahilly system, and it may not be a true transverse intercalary deficiency. We could gain functional improvement after operations on the hand anomalies.

Keywords:
Upper extremity; Phocomelia; Pollicization; Syndactyly division

Figures

Figure F1
The schematic drawings about three types of phocomelia described by Frantz and O'Rahillly. Type I (A), Type II (B) and Type III (C).
Figure F2
The schematic drawings about three types added by Tytherleigh-Strong and Hooper. Type A (A), Type B (B) and Type C (C).
Figure F3
The schematic drawings about 3 groups categorized by Goldfarb et al. Proximal radial longitudinal dysplasia (A), Proximal ulnar longitudinal dysplasia (B), Severe combined dysplasia type A (C), Severe combined dysplasia type B (D).
Figure F4
Unilateral phocomelia (Rt.) with intact shoulder joint (Case 4) X-ray shows relatively intact right shoulder joint. (A) There is only one forearm bone, to which humerus was fused. (B) Hand has only two digits as syndactyly. (C) This case can be classified as type C by Tytherleigh-Strong and Hooper and proximal radial longitudinal dysplasia by Goldfarb et al.
Figure F5
Unilateral phocomelia (Lt.) with contralateral upper extremity deformity. (Case 2) Lt. upper extremity radiograph shows abnormal glenoid, absence of proximal humerus and synostosis of ulna and radius. (A) Lt. hand had 4 digits with syndactyly of 1st and 2nd finger (B). Rt. upper extremity has radial club hand and hypoplastic thumb. (C) This case can be classified as type B by Tytherleigh-Strong and Hooper and proximal radial longitudinal dysplasia by Goldfarb et al.
Figure F6
Bilateral phocomelia. (Case 7) Radiographs shows abnormal shoulder joint, single arm bone with medial exostosis and hand with 5-digits. (C) Bilateral fibular hemimelia was accompanied. (B & D) Note symmetric deformities of the both upper extremity and lower extremity. This case can be classified as type C by Tytherleigh-Strong and Hooper and proximal ulnar longitudinal dysplasia by Goldfarb et al.
Figure F7
A case with pollicization and web space deepening. (Case 5) Preoperative photos and x-rays show only 2 digit, which cannot be opposed each other. (A) Pollicization was done with metacarpal shortening and pronation. (B) Intraoperative photos showing possible opposition, palmar view (C) and dorsal view (D).

Tables

Table
Clinical and Radiological Features of Cases

*Radial clubhand, Hypoplastic thumb; †B/L fibula hemimelia; ‡B/L fibula hemimelia, Cleft palate; §Syndactyly of 1st and 2nd; ∥Syndactyly of 2nd, 3rd and 4th, Rt., Syndactyly of 3rd and 4th, Lt.; PULD, proximal ulnar longitudinal dysplasia; PRLD, proximal radial longitudinal dysplasia.

Table
Details of the Operated Cases

*possible, but weak; †with realignment of 4th digit; ‡with excision of 1st finger; §dorsal Bauer flap with FTSG from antecubital area; ∥with web space deepening; possible tip pinch.

References

  • Baek GH, Chung MS, Park YB, Yoo KH. The relative incidence of congenital anomalies of the hand. J Korean Orthop Assoc 1997;32:796–801.

  • Chung MS, Yoon JO, Lee FY. A functional classification of congenital anomalies of the hand. J Korean Orthop Assoc 1988;3:109–118.

  • Chung MS, Baek GH, Gong HS. Congenital anomaly. In: Chung MS, editor. Hand surgery. 1st ed. Seoul: The Koonja Publishing Inc; 2005. pp. 1397-1398.

  • Flatt AE. In: The care of congenital hand anomalies. St. Louis: The CV Mosby Co; 1977. pp. 37-51.

  • Fletcher I. Review of the treatment of thalidomide children with limb deficiency in Great Britain. Clin Orthop Relat Res 1980;148:18–25.

  • Frantz CH, O'Rahilly R. Congenital skeletal limb deficiencies. J Bone Joint Surg 1961;43:1202–1224.

  • Goldfarb CA, Manske PR, Busa R, Mills J, Carter P, Ezaki M. Upper-extremity phocomelia reexamined: a longitudinal dysplasia. J Bone Joint Surg Am 2005;87:2639–2648.

  • Hur EJ, Park HM, Kim WK, Bae DW. A case of phocomelia. Korean J Obstet Gynecol 1987;30:1427–1433.

  • Johnson HA. Formation of a functional thumb post with sensation in phocomelia. J Bone Joint Surg Am 1967;49:327–332.

  • Kim YP, Kim BJ, Chung SR, Lee HJ. A case of phocomelia. Korean J Obstet Gynecol 1986;29:282–286.

  • Lamb DW, MacNaughtan AK, Fragiadakis EG. Phocomelia of the upper limb. Hand 1971;3:200–203.

  • Lee HJ, Kim DH, Kim HC, IM YG. A case of congenital phocomelia. Korean J Obstet Gynecol 1973;16:33–35.

  • Lee SJ, Chai JS, Chang HY, Bae DW. Two cases of phocomelia and chondrodystrophia fetalis. Korean J Obstet Gynecol 1974;17:339–342.

  • Shimizu J, Suruga K, Takano S. Therapy of phocomelia and the results of Sulamaa's operation. Seikei Geka 1967;18:304–307.

  • Sulamaa M. Upper extremity phocomelia. A contribution to its operative treatment. Clin Pediatr (Phila) 1963;2:251–257.

  • Sulamaa M, Ryoppy S. Early treatment of congenital bone defects of the extremities: aftermath of thalidomide disaster. Lancet 1964;18:130–132.

  • Taussig HB. A study of the German outbreak of phocomelila. The thalidomide syndrome. JAMA 1962;180:1106–1114.

  • Taussig HB. Thalidomide and phocomelia. Pediatrics 1962;30:654–659.

  • Tytherleigh-Strong G, Hooper G. The classification of phocomelia. J Hand Surg [Br] 2003;28:215–217.

  • Whang KH, Kim CH, Lee SJ, Lee SJ. A case of atypical phocomelia. Korean J Obstet Gynecol 1967;10:525–528.

  • Yamauchi Y, Nakamura S, Suzuki K, Suruga K. Sulamaa's operation for phocomelia; 7-year follow-up result. Seikei Geka 1971;22:907–908.

Figure 1

Figure F1

The schematic drawings about three types of phocomelia described by Frantz and O'Rahillly. Type I (A), Type II (B) and Type III (C).

Figure 2

Figure F2

The schematic drawings about three types added by Tytherleigh-Strong and Hooper. Type A (A), Type B (B) and Type C (C).

Figure 3

Figure F3

The schematic drawings about 3 groups categorized by Goldfarb et al. Proximal radial longitudinal dysplasia (A), Proximal ulnar longitudinal dysplasia (B), Severe combined dysplasia type A (C), Severe combined dysplasia type B (D).

Figure 4

Figure F4

Unilateral phocomelia (Rt.) with intact shoulder joint (Case 4) X-ray shows relatively intact right shoulder joint. (A) There is only one forearm bone, to which humerus was fused. (B) Hand has only two digits as syndactyly. (C) This case can be classified as type C by Tytherleigh-Strong and Hooper and proximal radial longitudinal dysplasia by Goldfarb et al.

Figure 5

Figure F5

Unilateral phocomelia (Lt.) with contralateral upper extremity deformity. (Case 2) Lt. upper extremity radiograph shows abnormal glenoid, absence of proximal humerus and synostosis of ulna and radius. (A) Lt. hand had 4 digits with syndactyly of 1st and 2nd finger (B). Rt. upper extremity has radial club hand and hypoplastic thumb. (C) This case can be classified as type B by Tytherleigh-Strong and Hooper and proximal radial longitudinal dysplasia by Goldfarb et al.

Figure 6

Figure F6

Bilateral phocomelia. (Case 7) Radiographs shows abnormal shoulder joint, single arm bone with medial exostosis and hand with 5-digits. (C) Bilateral fibular hemimelia was accompanied. (B & D) Note symmetric deformities of the both upper extremity and lower extremity. This case can be classified as type C by Tytherleigh-Strong and Hooper and proximal ulnar longitudinal dysplasia by Goldfarb et al.

Figure 7

Figure F7

A case with pollicization and web space deepening. (Case 5) Preoperative photos and x-rays show only 2 digit, which cannot be opposed each other. (A) Pollicization was done with metacarpal shortening and pronation. (B) Intraoperative photos showing possible opposition, palmar view (C) and dorsal view (D).

Table 1

Clinical and Radiological Features of Cases

Table

*Radial clubhand, Hypoplastic thumb; †B/L fibula hemimelia; ‡B/L fibula hemimelia, Cleft palate; §Syndactyly of 1st and 2nd; ∥Syndactyly of 2nd, 3rd and 4th, Rt., Syndactyly of 3rd and 4th, Lt.; PULD, proximal ulnar longitudinal dysplasia; PRLD, proximal radial longitudinal dysplasia.

Table 2

Details of the Operated Cases

Table

*possible, but weak; †with realignment of 4th digit; ‡with excision of 1st finger; §dorsal Bauer flap with FTSG from antecubital area; ∥with web space deepening; possible tip pinch.