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

Goo Hyun Baek; Moon Sang Chung; Young Ho Lee; Hyun Sik Gong; Seung Hwan Rhee; Ji Yeong Kim; Suk Jae Lee

doi:10.4055/jkoa.2008.43.6.685

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Baek, Chung, Lee, Gong, Rhee, Kim, and Lee: Phocomelia: The Clinical Manifestation, Classification and Surgical Treatment of Korean Patients with Phocomelia

Original Article

Journal of the Korean Orthopaedic Association

Journal of the Korean Orthopaedic Association 2008; 43(6): 685-693.

Published online: 31 December 2008

DOI: https://doi.org/10.4055/jkoa.2008.43.6.685

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., 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, 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 and Tables

Fig. 1

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

Fig. 2

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

Fig. 3

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).

Fig. 4

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.

Fig. 5

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 1^st and 2^nd 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.

Fig. 6

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.

Fig. 7

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

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

Table 2

Details of the Operated Cases

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

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