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Finger duplication in Apert's syndrome
FINGER
DUPLICATION
IN APERT'S
SYNDROME
P. J. ANDERSON, R. HALL and P. J. SMITH
From the Departments of Plastic and Craniofacial Surgery, Great Ormond Street Ho6pitalJbr Children, London, UK Three cases of unilateral duplication of the little finger in children with Apert's syndrome are presented. They provide additional evidence that the hands in Apert's syndrome are not always symmetrically affected. Journal of Hand Surgery (British and European Volume, 1996) 2~B: 5:649 651 CASE REPORTS Case 1
A 3-month-old child from Ireland was referred for craniofacial assessment. She was the sixth child and had been born at term following an unremarkable pregnancy. She was noted to have the stigmata of Apert's syndrome affecting her head, hands and feet. In addition, she had a cleft palate and a ventricular septal defect. The geneticists confirmed the diagnosis of Apert's syndrome. In addition to the severe deformity of both hands of Upton class III (Upton 1991), she was noted to have a unilateral duplication of the left little finger (Fig la). Radiography revealed the presence of an additional phalanx within this duplication (Fig 2). The child underwent excision of the accessory digit and closure of the resulting defect by Z-plasty at the age of 23 months (at the same time as syndactyly on the other hand was released). Two years later she has completed all syndactyly releases and has good hand function. Case 2
A 14-month-old girl from Oman was referred for craniofacial assessment because of airway obstruction and failure to thrive. She was the fifth child and had been born at term following an unremarkable pregnancy. She was noted to be dysmorphic with the stigmata of Apert's syndrome. She had previously undergone a frontal advancement procedure at the age of 7 months in Oman. On examination she was dyspnoeic at rest with obvious stigmata of Apert's syndrome affecting her head, face, hands and feet. The diagnosis of Apert's syndrome was confirmed by the genetics department. She was noted to have the most sex,ere deformity of both hands, Upton class III (Upton, 1991). However, she was also noted to have duplication of the little finger of the left hand (Fig 3). An additional phalanx was present on the radiograph of the affected hand (Fig 4). She has subsequently undergone facial bipartition to improve her airway. Early surgery to release her syndactylies is planned, and this will coincide with the correction of her finger duplication. These procedures will
b
Fig 1 Case1. (a) The left hand (palmar aspect), with widenedlittle finger (arrowed). (b) The right hand. 649
650
THEJOURNALOF HANDSURGERYVOL.21BNo. 5 OCTOBER1996
Fig 4 Fig 2
Case 1. Radiograph showing the left hand, with the additional phalanx (arrowed).
Fig 3
Bothhands in Case 2, the left showing duplication of the little finger (arrowed).
X-ray showing the additional phalanx (arrowed). This has the middle phalanx superimposed.
airway management at his local hospital. He had been born at 37 weeks gestation following an unremarkable pregnancy. He had the stigmata of Apert's syndrome affecting his head, hands and feet, and had marked maxillary hypoplasia. The diagnosis of Apert's syndrome was confirmed by the geneticists. Both hands were affected and graded as U p t o n class I ( U p t o n 1991 ). There was widening of the left little finger (Fig 5). X-ray revealed that there was additional bone formation and that he had partial duplication of his little finger (Fig 6).
commence once she has recovered from her maxillary surgery. Case 3 A 3-month-old boy from England was referred for urgent craniofacial assessment due to difficulties in
Fig 5
The hands of case 3 showing the widening of the left little finger (arrowed).
APERT'S SYNDROME
651
We can find no record of duplication of the little finger (ulnar polydactyly) occurring in previously reported case of Apert's syndrome. We also note that previously over 40 abnormalities have been described in association with ulnar polydactyly (Wood 1988), but that Apert's syndrome was not included. The little finger is reported to be the most commonly duplicated digit (Wood 1988). It is interesting that the duplication in'Apert's syndrome occurred unilaterally. It has been stated that the deformity of the hands is symmetrical in all cases (Upton, 1991 ), although it has been reported that this is not always so (Hoover et al, 1970). It is also notable that duplication occurred in hands exhibiting different degrees of severity of involvement. References
Fig 6
R a d i o g r a p h d e m o n s t r a t i n g the a d d i t i o n a l b o n e (arrowed).
DISCUSSION Apert's syndrome is characterized by craniosynostosis and complex synostoses affecting the hands and feet. The condition is results from a defect in the gene for fibroblastic growth factor receptor type 2 (Wilkie et al, 1995). The anatomy of the hand in Apert's syndrome is grossly abnormal, with anomalies of the bones, tendons, nerves and vasculature (Green, 1982). The clinical presentation is variable and a range of severity is recognized (Cantrell et al, 1994; Hoover et al, 1970; Upton, 1991).
CANTRELL S B, MOORE M H, TROTT J A, MORRIS R J and DAVID D J (1994). Phenotypic variation in acrocephalosyndactyly syndromes: mmsual findings in patient with features of Apert and Saethre-Chotzen syndrome. Cleft Palate-Craniofacial Journal, 31: 487-492. GREEN S M (I982). Pathological anatomy of the hands in Apert's syndrome. Journal of Hand Surgery; 7: 450-453. HOOVER G H, FLATT A E and WEISS M W (1970), The hand and Apert's syndrome. Journal of Bone and Joint Surgery, 52A: 878 895. UPTON J (1991). Classification and pathologic anatomy of limb anomalies. Clinics in Plastic Surgery, 18: 2: 321-355. WILKIE A O M, SLANEY S F, OLDRIDGE M e t al (1995). Apert syndrome results from localized mutations of FGFR2 and is alMic with Crouzon syndrome. Nature Genetics, 9: 165-171. WOOD V E. Postaxial Polydactyly (little finger polydactyly). In: Green D P (Ed.): Operative Hand Surgery, 2nd Edn. New York, Churchill Livingstone, 1988, Vol l: 479 485.
Accepted 11 December 1995 Mr P. J. Anderson, Great Omaond Street Hospital for Children, London, WC1N 3JH, UK. © 1996 The British Society for Surgery of the Hand
DUPLICATION
IN APERT'S
SYNDROME
P. J. ANDERSON, R. HALL and P. J. SMITH
From the Departments of Plastic and Craniofacial Surgery, Great Ormond Street Ho6pitalJbr Children, London, UK Three cases of unilateral duplication of the little finger in children with Apert's syndrome are presented. They provide additional evidence that the hands in Apert's syndrome are not always symmetrically affected. Journal of Hand Surgery (British and European Volume, 1996) 2~B: 5:649 651 CASE REPORTS Case 1
A 3-month-old child from Ireland was referred for craniofacial assessment. She was the sixth child and had been born at term following an unremarkable pregnancy. She was noted to have the stigmata of Apert's syndrome affecting her head, hands and feet. In addition, she had a cleft palate and a ventricular septal defect. The geneticists confirmed the diagnosis of Apert's syndrome. In addition to the severe deformity of both hands of Upton class III (Upton 1991), she was noted to have a unilateral duplication of the left little finger (Fig la). Radiography revealed the presence of an additional phalanx within this duplication (Fig 2). The child underwent excision of the accessory digit and closure of the resulting defect by Z-plasty at the age of 23 months (at the same time as syndactyly on the other hand was released). Two years later she has completed all syndactyly releases and has good hand function. Case 2
A 14-month-old girl from Oman was referred for craniofacial assessment because of airway obstruction and failure to thrive. She was the fifth child and had been born at term following an unremarkable pregnancy. She was noted to be dysmorphic with the stigmata of Apert's syndrome. She had previously undergone a frontal advancement procedure at the age of 7 months in Oman. On examination she was dyspnoeic at rest with obvious stigmata of Apert's syndrome affecting her head, face, hands and feet. The diagnosis of Apert's syndrome was confirmed by the genetics department. She was noted to have the most sex,ere deformity of both hands, Upton class III (Upton, 1991). However, she was also noted to have duplication of the little finger of the left hand (Fig 3). An additional phalanx was present on the radiograph of the affected hand (Fig 4). She has subsequently undergone facial bipartition to improve her airway. Early surgery to release her syndactylies is planned, and this will coincide with the correction of her finger duplication. These procedures will
b
Fig 1 Case1. (a) The left hand (palmar aspect), with widenedlittle finger (arrowed). (b) The right hand. 649
650
THEJOURNALOF HANDSURGERYVOL.21BNo. 5 OCTOBER1996
Fig 4 Fig 2
Case 1. Radiograph showing the left hand, with the additional phalanx (arrowed).
Fig 3
Bothhands in Case 2, the left showing duplication of the little finger (arrowed).
X-ray showing the additional phalanx (arrowed). This has the middle phalanx superimposed.
airway management at his local hospital. He had been born at 37 weeks gestation following an unremarkable pregnancy. He had the stigmata of Apert's syndrome affecting his head, hands and feet, and had marked maxillary hypoplasia. The diagnosis of Apert's syndrome was confirmed by the geneticists. Both hands were affected and graded as U p t o n class I ( U p t o n 1991 ). There was widening of the left little finger (Fig 5). X-ray revealed that there was additional bone formation and that he had partial duplication of his little finger (Fig 6).
commence once she has recovered from her maxillary surgery. Case 3 A 3-month-old boy from England was referred for urgent craniofacial assessment due to difficulties in
Fig 5
The hands of case 3 showing the widening of the left little finger (arrowed).
APERT'S SYNDROME
651
We can find no record of duplication of the little finger (ulnar polydactyly) occurring in previously reported case of Apert's syndrome. We also note that previously over 40 abnormalities have been described in association with ulnar polydactyly (Wood 1988), but that Apert's syndrome was not included. The little finger is reported to be the most commonly duplicated digit (Wood 1988). It is interesting that the duplication in'Apert's syndrome occurred unilaterally. It has been stated that the deformity of the hands is symmetrical in all cases (Upton, 1991 ), although it has been reported that this is not always so (Hoover et al, 1970). It is also notable that duplication occurred in hands exhibiting different degrees of severity of involvement. References
Fig 6
R a d i o g r a p h d e m o n s t r a t i n g the a d d i t i o n a l b o n e (arrowed).
DISCUSSION Apert's syndrome is characterized by craniosynostosis and complex synostoses affecting the hands and feet. The condition is results from a defect in the gene for fibroblastic growth factor receptor type 2 (Wilkie et al, 1995). The anatomy of the hand in Apert's syndrome is grossly abnormal, with anomalies of the bones, tendons, nerves and vasculature (Green, 1982). The clinical presentation is variable and a range of severity is recognized (Cantrell et al, 1994; Hoover et al, 1970; Upton, 1991).
CANTRELL S B, MOORE M H, TROTT J A, MORRIS R J and DAVID D J (1994). Phenotypic variation in acrocephalosyndactyly syndromes: mmsual findings in patient with features of Apert and Saethre-Chotzen syndrome. Cleft Palate-Craniofacial Journal, 31: 487-492. GREEN S M (I982). Pathological anatomy of the hands in Apert's syndrome. Journal of Hand Surgery; 7: 450-453. HOOVER G H, FLATT A E and WEISS M W (1970), The hand and Apert's syndrome. Journal of Bone and Joint Surgery, 52A: 878 895. UPTON J (1991). Classification and pathologic anatomy of limb anomalies. Clinics in Plastic Surgery, 18: 2: 321-355. WILKIE A O M, SLANEY S F, OLDRIDGE M e t al (1995). Apert syndrome results from localized mutations of FGFR2 and is alMic with Crouzon syndrome. Nature Genetics, 9: 165-171. WOOD V E. Postaxial Polydactyly (little finger polydactyly). In: Green D P (Ed.): Operative Hand Surgery, 2nd Edn. New York, Churchill Livingstone, 1988, Vol l: 479 485.
Accepted 11 December 1995 Mr P. J. Anderson, Great Omaond Street Hospital for Children, London, WC1N 3JH, UK. © 1996 The British Society for Surgery of the Hand