A newborn with Beals syndrome.

Abstract: We present the case of a newborn with multiple connective tissue abnormalities. Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly). A viable-term male infant was delivered to a healthy 30-year-old. The parents had no known history of familial birth defects. After delivery, it was noted that the infant could not extend either elbow past 90[degrees]. Further examination revealed a crumpled helix of the ear, ulnar deviation of the fingers, campylodactyly, and hyperextensible ankles. Further questioning revealed that the mother also had hyperflexible wrists and ankles, and several dislocations of both patellae in childhood. She never received a diagnosis or treatment for her condition. A careful examination of newborn deformities and extensive history-taking from the parents can reveal previously unknown genetic traits. Thus, initiating early screening and intervention can positively impact a child's future.

Key Words: congenital contractural arachnodactyly, Beals syndrome, "crumpled ear," fibrillin-2 protein

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We present a case of a newborn male found to have elbow contractures (Fig. 1) which limited his passive extension to 90[degrees]. This finding provoked a more careful examination which revealed several other connective tissue abnormalities including crumpled ear (Fig. 2), ulnar deviation of fingers (Fig. 3), campylodactyly (Fig. 4), and ankles which could be dorsiflexed to the shin (Fig. 5). Upon questioning the mother, she revealed that she also had hyperextensible wrists and ankles, and had several dislocations of both patellae in childhood. This history and physical indicated that Beals syndrome, also known as congenital contractural arachnodactyly (CCA), affected them both. By identifying these anomalies and recognizing the genetic predisposition, families can be educated on appropriate therapeutic interventions, including physical therapy and surgery.

Case Report

Our patient, a 30-year-old gravida 1, para 0, presented to the labor and delivery ward at 40 and 1/7 weeks gestational age complaining of spontaneous rupture of membranes approximately four hours earlier. The fluid was noted to be clear by her report. Her antenatal course was notable for a false positive triple screen for trisomy-21 and a routine second trimester ultrasound that revealed an atrial septal defect. Follow-up of both findings by a maternal-fetal medicine specialist showed normal karyotype; thus ruling out Down syndrome, and normal cardiac anatomy. The patient's labor was augmented with pitocin and after approximately 14 hours, her cervix failed to dilate beyond 7 cm with 75% effacement and a station of zero. The fetal heart tracing began showing late decelerations with fetal tachycardia. Along with elevated maternal temperature, a diagnosis of chorioamnionitis was made, antibiotics were initiated, and the patient consented to a low transverse cesarean section. A 3,309 g male infant was delivered with Apgar scores of 3, 9, and 9 at 1, 5 and 10 minutes respectively. Likewise, the infant was started on appropriate antibiotic therapy. On initial physical examination, it was noted that the infant could not extend either elbow beyond 90[degrees] (Fig. 1). When the mother revealed that she also had a similar limitation, a more detailed examination was pursued and the crumpled ear (Fig. 2), ulnar deviation of fingers (Fig. 3), campylodactyly (Fig. 4), and hyperextensible ankles (Fig. 5) were found. Cross-referencing these anomalies with the index in Smith's Recognizable Patterns of Human Malformations indicated Beals syndrome as the likely cause. (1)

Discussion

Beals syndrome, which is also known as Beals-Hecht syndrome or CCA, is classified as distal arthrogryposis Type 9. (2) It is a rare autosomal dominant disorder of the connective tissue. Frederick Hecht and Rodney Beals first distinguished this disorder from Marfan syndrome in 1971, by noting arach-nodactyly, contractures, ear deformities, and progressive kyphoscoliosis without the development of ocular or cardiovascular complications. (3) Notable also is the fact that Marfan contractures usually are not present at birth but develop and progress; this contradicts CCAs presence at birth with a usually spontaneous, nearly complete regression. (4) The gene (5q 23-31) that codes for the defective connective tissue component, fibrillin-2 protein, has been discovered to be mutated in Beals. (5) The incidence of this mutational occurrence is less than 1:10,000, which is similar to other contractural disorders. (6) Other features of Beals syndrome include osteopenia, narrow elongated body habitus, pectus excavatum or cavinatum, muscular hypoplasia, micrognathia, and highly arched palate. (7) Our patient was also noted to have pectus excavatum.

Although cardiac anomalies are very rarely encountered in association with Beals, one of the children reported in the original report by Beals and Hecht was also found to have an atrial septal defect at autopsy, (3) which raises the question of the significance of this initial incidental prenatal finding. Such an inference further clouds the lines of distinction between the different classes of arthrogryposes. However, the utility of the fetal ultrasound in even earlier detection of CCA cannot be discounted, as case reports have published that ultrasound features at 25 weeks gestational age were consistent with the predominant features of Beals. (8) If one were to also take into account that the abnormal triple screen may be an early predictor for more fetal abnormalities than we now realize, the future of prenatal detection of this particular anomaly can be speculated. The authors of this report also considered the relationship of the lack of complete cervical dilation to the mother's own contractural disorder of the connective tissue.

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The importance of early recognition can alert the obstetrician to anticipate dysfunctional labor and to obtain an umbilical cord blood sample for molecular examination. Likewise, a pediatrician can be prepared to provide the best care, including reassurance. (8) Parents should be reminded that life expectancy is not limited. Self therapies, formal physical therapy, and if necessary for refractory cases, surgical tendon releases and realignments are available to improve appearance and functionality even while the child is very young.

Conclusion

In conclusion, it cannot be stressed enough that physical examination findings during the initial evaluation of a newborn should not be minimized, and a detailed examination and complete family history should be obtained. Previously unrecognized genetic predispositions can be uncovered in a family tree allowing for proper diagnosis and early therapeutic interventions, so that lifelong disability is decreased.

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References

1. Jones K. Smith's Recognizable Patterns of Human Malformation, 5th edition. Philadelphia, Saunders, 1997, p 476.

2. Beals R. The distal arthrogryposes: a new classification of peripheral contractures. Clin Orthop Relat Res 2005;435:203-210.

3. Hecht F, Beals R. "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics 1972;49:574-579.

4. Beals R, Hecht F. Congenital contractural arachnodactyly. A heritable disorder of connective tissue. J Bone Joint Surg Am 1971;53:987-993.

5. Viljoen D. Congenital contractural arachnodactyly (Beals syndrome). J Med Genet 1994;31:640-643.

6. Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet encyclopedia. Available at: http://www.orpha.net/data/patho/GB/uk-BealsSyndrome.pdf.

7. The University of Texas Health Science Center at Houston. Congenital contractural arachnodactyly/Beals' Syndrome. Available at: http://www.uth.tmc.edu/schools/med/imed/med_gen/beals.htm.

8. Kolble N, Wisser J, Babcock D, et al. Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. Ultrasound Obstet Gynecol 2002;20:395-399.

Leslye Green, MD, MPH, and David Lesser, MD

From the Family Medicine Department, Naval Hospital Pensacola, Pensacola, FL.

Reprint requests to Dr. Leslye Green, Naval Hospital Pensacola, Family Medicine Department, 6000 West Highway 98, Pensacola, FL 32512. Email: [e-mail]

Accepted January 24, 2006.

RELATED ARTICLE: Key Points

* A careful examination of the infant and history from the mother revealed that both were afflicted with Beals syndrome.

* Beals syndrome is classified amongst a large group of arthrogryposes, which includes Marfan syndrome.

* The major features of Beals syndrome are arachnodactyly, contractures, and ear deformities with the absence of eye and heart anomalies.

* Early physical therapy can help prevent lifelong disability with good prognosis; surgical treatment is available for refractory cases.