Plastic & Reconstructive Surgery:
Liebenberg Syndrome: First Case of Monovular Twins
Di Gennaro, Gianluigi M.D.; Gilardi, Roberta M.D.; Landi, Antonio M.D.; Ferrari, Paola M.D.; Sartini, Silvana M.D.
Istituto Ortopedico Rizzoli; Bologna, Italy (Di Gennaro)
Hand Surgery Department (Gilardi, Landi)
Paediatric Department (Ferrari)
Hand Rehabilitation Center; Modena University Hospital; Modena, Italy (Sartini)
Correspondence to Dr. Gilardi; Hand Surgery Department; Modena University Hospital; Modena, Italy; email@example.com
Liebenberg syndrome is a very rare condition characterized by dysplasia of bony components of elbow joint, abnormalities in dimension and shape of carpal bones, and brachydactyly. After Liebenberg's1 description of a five-generation pedigree with autosomal dominant inheritance, the same family was reexamined by Beighton2,3 in 1985; additional affected persons were identified. Tiberio et al.4 in 2000 reported on a mother and two sons whose clinical and radiographic features resembled those of Liebenberg syndrome. We report the first case of monovular twins, girls, second-born to nonconsanguineous healthy parents, both affected in both upper arms. They presented with bilateral radial club hands at birth. They were referred to our center at 18 months. On clinical evaluation, some dysmorphic features were noted, such as flattening of the eyebrow arch, flat nasal bridge with hypoplastic nasal tip and anteversion of the nasal wings, long filtrum, thin lips, oval shaped mouth, ogival palate, altered dermatoglyphics, and accentuated sacral dimple. In the anatomical position, the elbow joints were flexed bilaterally at 80 degrees, combined with a supination and varism posture. The wrist joints were deviated radially. Neuromotor development was normal. Anteroposterior radiographs of the arm, forearms, and hands were obtained and showed dysplasia of bony components of the elbow joint, anticipated appearance of the capitate and hamate, and triquetral hyperplasia. Radiographs taken at 18 months show dysplasia of all bony components of the elbow joint (Fig. 1), where the radius and ulna have the same round shape and same length, without synostosis, and the joint is enlarged and poorly modeled; the wrist (Fig. 2) presents a normal capitate, enlarged hamate, a lunate with ossification center that is normally absent at this age; and finally, a very important hypertrophic triquetrum with radial deviation of the wrist. A magnetic resonance imaging scan obtained at age 2 years (Fig. 3) shows abnormal radial and ulna head. The carpal bones are not fused but are larger and their ossification centers appear earlier than the normal ones.5 There are no substantial differences in the length and shape of metacarpals and phalanges. These radiographic findings are consistent with previous authors' descriptions. The main considerations regarding the differential diagnosis6 between Liebenberg syndrome and other disorders involving elbow dysplasia, carpal bones, and hand anomalies concern prognosis and genetic counseling. In fact, Liebenberg syndrome seems to cause no other relevant problem apart from limited flexion-extension of the elbow and wrist. No report of surgical treatment has ever been published: according to our observations, the main problems are elbow joint instability and range-of-motion reduction of the elbow joint, resulting in difficulties in daily activities. Corrective osteotomy of triquetrum may be planned if radial deviation worsens with time. A DNA study is ongoing.
The authors thank Tracy Fairplay for testing, splinting, and rehabilitating their patients and Dr. L. Di Pancrazio for the imaging.
Gianluigi Di Gennaro, M.D.
Istituto Ortopedico Rizzoli; Bologna, Italy
Roberta Gilardi, M.D.
Antonio Landi, M.D.
Hand Surgery Department
Paola Ferrari, M.D.
Silvana Sartini, M.D.
Hand Rehabilitation Center; Modena University Hospital; Modena, Italy
1. Liebenberg F. A pedigree with unusual anomalies of the elbows, wrists and hands in five generations. S Afr Med J. 1973;47:745–747.
2. Beighton P. Personal communication to McKusick VA, March 13, 1985. In: Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore: Johns Hopkins University Press; 1998.
3. Beighton P. Inherited Disorders of the Skeleton. 2nd ed. Edinburgh: Churchill Livingstone; 1998:330.
4. Tiberio G, Digilio MC, Graziani M, Testa F, Giannotti A. Liebenberg syndrome: Brachydactyly with joint dysplasia (MIM 186550). A second family. J Med Genet. 2000;37:548–551.
5. Greulich WW, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist. 2nd ed. Palo Alto, Calif: Stanford University Press; 1959.
6. Hurvitz SA, Goodman RM, Hertz M, Katznelson MBM, Sack Y. The facio-audio-symphalangism syndrome: Report of a case and a review of the literature. Clin Genet. 1985;28:61–68.
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