FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2094599752> ?p ?o ?g. }

• W2094599752 endingPage "27e" @default.
• W2094599752 startingPage "25e" @default.
• W2094599752 abstract "Sir: 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.Fig. 1.: Anteroposterior radiograph of the forearm.Fig. 2.: Anteroposterior radiograph of the wrist.Fig. 3.: Magnetic resonance imaging scan of the wrist at age 2 years. Note the round shape of the ulna head.ACKNOWLEDGMENTS 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. Paediatric Department Silvana Sartini, M.D. Hand Rehabilitation Center; Modena University Hospital; Modena, Italy" @default.
• W2094599752 created "2016-06-24" @default.
• W2094599752 creator A5018059302 @default.
• W2094599752 creator A5019350463 @default.
• W2094599752 creator A5056157710 @default.
• W2094599752 creator A5080209349 @default.
• W2094599752 creator A5081066556 @default.
• W2094599752 date "2010-01-01" @default.
• W2094599752 modified "2023-09-27" @default.
• W2094599752 title "Liebenberg Syndrome: First Case of Monovular Twins" @default.
• W2094599752 cites W2098539000 @default.
• W2094599752 cites W2136565221 @default.
• W2094599752 doi "https://doi.org/10.1097/prs.0b013e3181c2a2d3" @default.
• W2094599752 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20048589" @default.
• W2094599752 hasPublicationYear "2010" @default.
• W2094599752 type Work @default.
• W2094599752 sameAs 2094599752 @default.
• W2094599752 citedByCount "3" @default.
• W2094599752 countsByYear W20945997522013 @default.
• W2094599752 crossrefType "journal-article" @default.
• W2094599752 hasAuthorship W2094599752A5018059302 @default.
• W2094599752 hasAuthorship W2094599752A5019350463 @default.
• W2094599752 hasAuthorship W2094599752A5056157710 @default.
• W2094599752 hasAuthorship W2094599752A5080209349 @default.
• W2094599752 hasAuthorship W2094599752A5081066556 @default.
• W2094599752 hasBestOaLocation W20945997521 @default.
• W2094599752 hasConcept C105702510 @default.
• W2094599752 hasConcept C126322002 @default.
• W2094599752 hasConcept C141071460 @default.
• W2094599752 hasConcept C187212893 @default.
• W2094599752 hasConcept C2775894508 @default.
• W2094599752 hasConcept C2777695862 @default.
• W2094599752 hasConcept C2777871287 @default.
• W2094599752 hasConcept C2778013446 @default.
• W2094599752 hasConcept C2778216619 @default.
• W2094599752 hasConcept C2781133459 @default.
• W2094599752 hasConcept C2781184374 @default.
• W2094599752 hasConcept C29694066 @default.
• W2094599752 hasConcept C36454342 @default.
• W2094599752 hasConcept C71924100 @default.
• W2094599752 hasConceptScore W2094599752C105702510 @default.
• W2094599752 hasConceptScore W2094599752C126322002 @default.
• W2094599752 hasConceptScore W2094599752C141071460 @default.
• W2094599752 hasConceptScore W2094599752C187212893 @default.
• W2094599752 hasConceptScore W2094599752C2775894508 @default.
• W2094599752 hasConceptScore W2094599752C2777695862 @default.
• W2094599752 hasConceptScore W2094599752C2777871287 @default.
• W2094599752 hasConceptScore W2094599752C2778013446 @default.
• W2094599752 hasConceptScore W2094599752C2778216619 @default.
• W2094599752 hasConceptScore W2094599752C2781133459 @default.
• W2094599752 hasConceptScore W2094599752C2781184374 @default.
• W2094599752 hasConceptScore W2094599752C29694066 @default.
• W2094599752 hasConceptScore W2094599752C36454342 @default.
• W2094599752 hasConceptScore W2094599752C71924100 @default.
• W2094599752 hasIssue "1" @default.
• W2094599752 hasLocation W20945997521 @default.
• W2094599752 hasOpenAccess W2094599752 @default.
• W2094599752 hasPrimaryLocation W20945997521 @default.
• W2094599752 hasRelatedWork W120427950 @default.
• W2094599752 hasRelatedWork W2024186202 @default.
• W2094599752 hasRelatedWork W2050654876 @default.
• W2094599752 hasRelatedWork W2131111891 @default.
• W2094599752 hasRelatedWork W2133663815 @default.
• W2094599752 hasRelatedWork W2413565223 @default.
• W2094599752 hasRelatedWork W2473524632 @default.
• W2094599752 hasRelatedWork W2588966994 @default.
• W2094599752 hasRelatedWork W2906519921 @default.
• W2094599752 hasRelatedWork W52389378 @default.
• W2094599752 hasVolume "125" @default.
• W2094599752 isParatext "false" @default.
• W2094599752 isRetracted "false" @default.
• W2094599752 magId "2094599752" @default.
• W2094599752 workType "article" @default.