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; firstname.lastname@example.org
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
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
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
Viewpoints, pertaining to issues of general interest, are welcome, even if they are not related to items previously published. Viewpoints may present unique techniques, brief technology updates, technical notes, and so on. Viewpoints will be published on a space-available basis because they are typically less timesensitive than Letters and other types of articles. Please note the following criteria:
* Text—maximum of 500 words (not including references)
* References—maximum of five
* Authors—no more than five
* Figures/Tables-no more than two figures and/or one table
Authors will be listed in the order in which they appear in the submission. Viewpoints should be submitted electronically via PRS' enkwell, at www.editorialmanager.com/prs/. We strongly encourage authors to submit figures in color.
We reserve the right to edit Viewpoints to meet requirements of space and format. Any financial interests relevant to the content must be disclosed. Submission of a Viewpoint constitutes permission for the American Society of Plastic Surgeons and its licensees and assignees to publish it in the Journal and in any other form or medium.
The views, opinions, and conclusions expressed in the Viewpoints represent the personal opinions of the individual writers and not those of the publisher, the Editorial Board, or the sponsors of the Journal. Any stated views, opinions, and conclusions do not reflect the policy of any of the sponsoring organizations or of the institutions with which the writer is affiliated, and the publisher, the Editorial Board, and the sponsoring organizations assume no responsibility for the content of such correspondence.
This article has been cited 2 time(s).
GeneLiebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristicsGene
Journal of Hand Surgery-American VolumeLiebenberg Syndrome: Case Report and Insight Into Molecular BasisJournal of Hand Surgery-American Volume
©2010American Society of Plastic Surgeons
What does "Remember me" mean?
By checking this box, you'll stay logged in until you logout. You'll get easier access to your articles, collections,
media, and all your other content, even if you close your browser or shut down your
To protect your most sensitive data and activities (like changing your password),
we'll ask you to re-enter your password when you access these services.
What if I'm on a computer that I share with others?
If you're using a public computer or you share this computer with others, we recommend
that you uncheck the "Remember me" box.
Data is temporarily unavailable. Please try again soon.
Readers Of this Article Also Read