American Journal of M e d i c a l Genetics U 7 2 - 7 4 (1992)
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Congenital Contractural Arachnodactyly With Unilateral Lower Limb Deficiency T.R.P. Cole and H.E. Hughes Znstitute of Medical Genetics, University Hospital of Wales, Cardiff, Wales, United Kingdom
We report an infant with congenital contractural arachnodactyly and a unilateral lower limb deficiency. o 1m wiiey-bs, hc.
KEY WORDS Congenital contractural arachnodactyly, Marfan syndrome, caif hypoplasia, limb deficiency INTRODUCTION In 1971, Beals and Hecht described 2 kindreds and reviewed a further 11 families from the literature who had congenital contractural arachnodactyly, abnormally folded external ears and an autosomal dominant pattern of inheritance. On clinical examination, none of these patients has dislocation of the lens or cardiac lesions typical of Marfan syndrome and the authors suggested that their patients had a distinct syndrome. This syndrome since has become known as congenital contractural arachnodactyly (CCA)or Beals syndrome. Following the original description, it has become apparent that foot deformities such as calcaneovalgus and metatarsus varus, calf hypoplasia, and bowing of the long bones (with or without shortening) are common associated findings [Beals and Hecht, 1971; Ramos-Arroyo et al., 19851. We report on a 23-month-old-girl with the CCA phenotype and a deficiency of the right leg which we believe represents the most severe end of the spectrum of the “calf hypoplasia” described in this condition. CLINICAL REPORT P.C., a female, is the first child of 32-year-oldnonconsanguineous parents. Both parents are well, and have no clinical manifestations of CCA or Marfan syndrome. There was no evidence of exposure to toxic agents during this pregnancy. The patient was born a t term by ventouse extraction after failure to progress in labour. Apgar scores at birth were 7 and 8 and one and five minutes, respectively. Birth measurements were:
Received for publication August 22,1991; revision received September 23, 1991. Address reprint requests to T.R.P.Cole, Institute of Medical Genetics, University Hospital of Wales, Cardiff, Wales, United Kingdom.
O 1992 Wiley-Liss, Inc.
weight 3.840 kg (50-90th centile), length 59 cm (> 97th centile) and occipitofrontal circumference (OFC) 35 cm (50th centile). At delivery, the followingmanifestations were noted: a deficiency of the right leg (Fig. 11,bilateral flexion deformity of both little fingers at the proximal interphalangeal joint (Fig. 2) and dysplastic external ears (Fig. 3). The family was referred for genetic counselling when the patient was 4 months old. At this time, her length was 66 cm (90-97th centile), weight was 7.2 kg (50-90th centile) and the OFC 44 cm (98th centile). In addition to the anomalies described above, the infant also had mild micrognathia, arachnodactyly (Fig. 2) (hand 8 cm, 50-75th centile, third digit 4 cm, > 97th centile), long slender toes and mild calf hypoplasia with bowing of the left leg (Fig. 4). Radiological assessment of al1 limbs showed marked bowing of the right fibula and a hypoplastic right tibia (Fig. 51, mild bowing of the left fíbula and tibia (Fig. 6), normal long bones in the arms, fifth finger camptodactyly and marked arachnodactyly (Fig. 7). No other joint abnormalities or scoliosis were identified. Echocardiographic and ophthalmological assessments, including slit lamp examinations, at 6 and 23 months were normal. Review at age 23 months confirmed the persistence of arachnodactyly, contractures of the fifth finger and dysplastic ears. Micrognathia was still present, but less marked (Fig. 8).Developmentwas within normal limits. Multi-stage orthopaedic intervention on the right leg is still ongoing, but at present the patient is walking well with a built-up shoe. Chromosome analysis is normal (46,XX). DISCUSSION The clinical manifestations in this infant, with the exception of the deficiency of the right leg, are typical of those described in CCA. The most important condition to differentiate from CCA is Marfan syndrome. While there remains controversy about the separation of these conditions into 2 distinct syndromes [Bass et al., 1981; Anderson et al., 1984;Huggon et al., 19891the finding of camptodactyly, arachnodactyly and dysplastic ears without cardiovascular or ocular manifestations, makes the diagnosis of Marfan syndrome unlikely while strongly supporting the diagnosis of CCA. We are not aware of any previous case of CCA in the literature with a deficiency of the lower limbs. However, in Beals and Hecht’s original paper, al1 4 of the patients examined
Limb Def iciency in Congenital Contractural Arachnodactyly
Fig. 2. View of right hand.
Fig. 1. View of legs showing abnormality on right.
Fig. 3. Right profile showing crumpled ear.
Fig. 5. X-ray of right leg.
Fig. 4. Frontal view showing long toes and bowing of the left leg.
Fig. 6. X-ray of left leg.
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Cole and Hughes
Fig. 7. X-ray of hands.
personally by the authors had foot deformities described as either calcaneovalgus or metatarsus varus. Three of these cases also had slender calves, 2 had bowing of the long bones of the forearm, and 2 showed radiological shortening of the dista1 portion of the ulnae. In 1985, Ramos-Arroyo et al. described a further 11 cases and reviewed 29 literature cases. Clubfeet and bowed long bones were identified in 37% and 25% of cases, respectively, and hypoplastic calf muscles were identified iii Fig. 8. Lateral facial view showing micrognathia at age 23 months. 60% of cases. This child has many of the typical manifestations of CCA but, in addition, a deficiency of the right leg. We RK, Hecht F (1971):Congenital contractural arachnodadyly. A suggest that this may be the “severe end of the spec- Beals heritable disorder of connective tissue. J Bone Joint Surg 53: trum” of calf hypoplasia and thin bowed long bones 987-993. described in this syndrome. Child A (1988): Diagnosing Marfan syndrome (letter). Br Med J 296:1672-1673.
ACKNOWLEDGMENTS Huggon IC, Burke JP, Talbot J F (1990):Contractural arachnodactyly with mitra1 regurgitation and iridodonesis. Arch Dis Child 6 5 We thank Dr. A. Palit and Mr. Gwyn Evans for allowing us to report details of their patient. Dr. T.R.P. 317-319. RE, McKusick VA (1979):The Marfan syndrome; Diagnosis Cole is supported by an Action Research training fellow- Pyeritz and management. N Engl J Med 300772-777. ship. Ramos-Arroyo MA, Weaver DD, Beals RK (1985):Congenital contracREFERENCES Bass HN, Sparkes RS, Crandall BF et al. (1981):Congenital contractural arachnodactyly keratoconus and probable Marfan syndrome on the same pedigree. J Pediatr 98591-593.
tural arachnodactyly,report of four additional families and review of literature. Clin Genet 27:570-581. Super M (1988):Diagnosing Marfan syndrome. Br Med J 296:1347.
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Congenital Contractural Arachnodactyly With Unilateral Lower Limb Deficiency T.R.P. Cole and H.E. Hughes Znstitute of Medical Genetics, University Hospital of Wales, Cardiff, Wales, United Kingdom
We report an infant with congenital contractural arachnodactyly and a unilateral lower limb deficiency. o 1m wiiey-bs, hc.
KEY WORDS Congenital contractural arachnodactyly, Marfan syndrome, caif hypoplasia, limb deficiency INTRODUCTION In 1971, Beals and Hecht described 2 kindreds and reviewed a further 11 families from the literature who had congenital contractural arachnodactyly, abnormally folded external ears and an autosomal dominant pattern of inheritance. On clinical examination, none of these patients has dislocation of the lens or cardiac lesions typical of Marfan syndrome and the authors suggested that their patients had a distinct syndrome. This syndrome since has become known as congenital contractural arachnodactyly (CCA)or Beals syndrome. Following the original description, it has become apparent that foot deformities such as calcaneovalgus and metatarsus varus, calf hypoplasia, and bowing of the long bones (with or without shortening) are common associated findings [Beals and Hecht, 1971; Ramos-Arroyo et al., 19851. We report on a 23-month-old-girl with the CCA phenotype and a deficiency of the right leg which we believe represents the most severe end of the spectrum of the “calf hypoplasia” described in this condition. CLINICAL REPORT P.C., a female, is the first child of 32-year-oldnonconsanguineous parents. Both parents are well, and have no clinical manifestations of CCA or Marfan syndrome. There was no evidence of exposure to toxic agents during this pregnancy. The patient was born a t term by ventouse extraction after failure to progress in labour. Apgar scores at birth were 7 and 8 and one and five minutes, respectively. Birth measurements were:
Received for publication August 22,1991; revision received September 23, 1991. Address reprint requests to T.R.P.Cole, Institute of Medical Genetics, University Hospital of Wales, Cardiff, Wales, United Kingdom.
O 1992 Wiley-Liss, Inc.
weight 3.840 kg (50-90th centile), length 59 cm (> 97th centile) and occipitofrontal circumference (OFC) 35 cm (50th centile). At delivery, the followingmanifestations were noted: a deficiency of the right leg (Fig. 11,bilateral flexion deformity of both little fingers at the proximal interphalangeal joint (Fig. 2) and dysplastic external ears (Fig. 3). The family was referred for genetic counselling when the patient was 4 months old. At this time, her length was 66 cm (90-97th centile), weight was 7.2 kg (50-90th centile) and the OFC 44 cm (98th centile). In addition to the anomalies described above, the infant also had mild micrognathia, arachnodactyly (Fig. 2) (hand 8 cm, 50-75th centile, third digit 4 cm, > 97th centile), long slender toes and mild calf hypoplasia with bowing of the left leg (Fig. 4). Radiological assessment of al1 limbs showed marked bowing of the right fibula and a hypoplastic right tibia (Fig. 51, mild bowing of the left fíbula and tibia (Fig. 6), normal long bones in the arms, fifth finger camptodactyly and marked arachnodactyly (Fig. 7). No other joint abnormalities or scoliosis were identified. Echocardiographic and ophthalmological assessments, including slit lamp examinations, at 6 and 23 months were normal. Review at age 23 months confirmed the persistence of arachnodactyly, contractures of the fifth finger and dysplastic ears. Micrognathia was still present, but less marked (Fig. 8).Developmentwas within normal limits. Multi-stage orthopaedic intervention on the right leg is still ongoing, but at present the patient is walking well with a built-up shoe. Chromosome analysis is normal (46,XX). DISCUSSION The clinical manifestations in this infant, with the exception of the deficiency of the right leg, are typical of those described in CCA. The most important condition to differentiate from CCA is Marfan syndrome. While there remains controversy about the separation of these conditions into 2 distinct syndromes [Bass et al., 1981; Anderson et al., 1984;Huggon et al., 19891the finding of camptodactyly, arachnodactyly and dysplastic ears without cardiovascular or ocular manifestations, makes the diagnosis of Marfan syndrome unlikely while strongly supporting the diagnosis of CCA. We are not aware of any previous case of CCA in the literature with a deficiency of the lower limbs. However, in Beals and Hecht’s original paper, al1 4 of the patients examined
Limb Def iciency in Congenital Contractural Arachnodactyly
Fig. 2. View of right hand.
Fig. 1. View of legs showing abnormality on right.
Fig. 3. Right profile showing crumpled ear.
Fig. 5. X-ray of right leg.
Fig. 4. Frontal view showing long toes and bowing of the left leg.
Fig. 6. X-ray of left leg.
73
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Cole and Hughes
Fig. 7. X-ray of hands.
personally by the authors had foot deformities described as either calcaneovalgus or metatarsus varus. Three of these cases also had slender calves, 2 had bowing of the long bones of the forearm, and 2 showed radiological shortening of the dista1 portion of the ulnae. In 1985, Ramos-Arroyo et al. described a further 11 cases and reviewed 29 literature cases. Clubfeet and bowed long bones were identified in 37% and 25% of cases, respectively, and hypoplastic calf muscles were identified iii Fig. 8. Lateral facial view showing micrognathia at age 23 months. 60% of cases. This child has many of the typical manifestations of CCA but, in addition, a deficiency of the right leg. We RK, Hecht F (1971):Congenital contractural arachnodadyly. A suggest that this may be the “severe end of the spec- Beals heritable disorder of connective tissue. J Bone Joint Surg 53: trum” of calf hypoplasia and thin bowed long bones 987-993. described in this syndrome. Child A (1988): Diagnosing Marfan syndrome (letter). Br Med J 296:1672-1673.
ACKNOWLEDGMENTS Huggon IC, Burke JP, Talbot J F (1990):Contractural arachnodactyly with mitra1 regurgitation and iridodonesis. Arch Dis Child 6 5 We thank Dr. A. Palit and Mr. Gwyn Evans for allowing us to report details of their patient. Dr. T.R.P. 317-319. RE, McKusick VA (1979):The Marfan syndrome; Diagnosis Cole is supported by an Action Research training fellow- Pyeritz and management. N Engl J Med 300772-777. ship. Ramos-Arroyo MA, Weaver DD, Beals RK (1985):Congenital contracREFERENCES Bass HN, Sparkes RS, Crandall BF et al. (1981):Congenital contractural arachnodactyly keratoconus and probable Marfan syndrome on the same pedigree. J Pediatr 98591-593.
tural arachnodactyly,report of four additional families and review of literature. Clin Genet 27:570-581. Super M (1988):Diagnosing Marfan syndrome. Br Med J 296:1347.
