Disease: Hypoplasia of the tibia with polydactyly
- 'Epiphyseal dysgenesis' in Laurence-Moon-Biedl-Bardet syndrome
- A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle
- A 63-mm human fetus with radial aplasia, tibial polydactyly, rib and vertebral fusions, and right aortic arch
- A benign form of congenital anterolateral bowing of the tibia associated with ipsilateral polydactyly of the hallux: case report and literature review
- A case of short rib polydactyly
- A distinctive presentation of diplopodia: a Y-metatarsal combining the extra foot and the extra digit of the main foot
- A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984
- A hereditable combination of congenital anomalies
- A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
- A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail
- A rare case of diplopodia and syndactyly: anatomical and surgical considerations
- A short rib polydactyly syndrome overlapping both lethal and nonlethal types
- A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
- A sporadic case of tetramelic mirror-image polydactyly and unilateral tibial hypoplasia without associated anomalies
- A syndrome of brachyphalangy, polydactyly and absent tibiae
- Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder
- Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?
- Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis
- Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia
- An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings
- Analysis of Msx1; Msx2 double mutants reveals multiple roles for Msx genes in limb development
- Anatomical features associated with preaxial duplication (pd): a recessive mutation in the rat
- Anatomy of a duplicated human foot from a limb with fibular dimelia
- Antenatal detection of recurrence of Majewski dwarf (short rib-polydactyly syndrome type II Majewski)
- Anterolateral tibial bowing and duplication of the hallux: a rare but distinct entity with good prognosis
- Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance
- Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family
- Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter
- Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings
- Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature
- Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on "developmental resistance"
- Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India
- Congenital absence of the tibiae and thumbs with polydactyly. A rare genetic disease (Werner's syndrome)
- Congenital agenesis of the tibia associated with polydactyly. Presentation of a new case
- Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe
- Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
- Congenital diplopodia-A rare case of duplicated lower limb: A case report
- Congenital malformations. Cleft palate, congenital heart disease, absent tibiae, and polydactyly
- Congenital tibial aplasia with polydactyly: implications of arterial anatomy for abnormal limb morphogenesis
- Congenital tibial aplasia with preaxial polydactyly: soft tissue anatomy as a clue to teratogenesis
- Congenital tibial aplasia with preaxial polydactyly. A case report
- Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
- Distal trisomy 10q and limb defects
- Doublefoot: a new mouse mutant affecting development of limbs and head
- Ellis-van Creveld syndrome in a patient from Tanzania
- Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance
- Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby
- Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach
- Fibula dimelia in association with ipsilateral proximal focal femoral deficiency, tibial deficiency, and polydactyly. A case report
- Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association
- Five-fingered hand associated with partial or complete tibial absence and pre-axial polydactyly. A kindred of 15 affected individuals in five generations
- Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome?
- Fuhrmann syndrome: two Brazilian cases
- Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers
- Grebe-Quelce-Salgado chondrodystrophy: prenatal diagnosis of two new cases in unrelated families in Southern Brazil
- Heritable syndrome of skeletal defects in a family of Australian shepherd dogs
- Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in a positive feedback loop
- Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela
- Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?
- Laurin-Sandrow syndrome: review and redefinition
- Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report
- Mesomelic dysplasia: presentation of a case and literature of Werner's syndrome
- Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome
- Mirror foot
- Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations
- Nation-wide registration of limb deficiencies in Germany
- NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
- Observations about the normal and abnormal embryogenesis of the canine lip and palate
- Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies
- Orthopaedic manifestations of Bardet-Biedl syndrome
- Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome
- Pathomorphology and treatment of congenital anterolateral bowing of the tibia associated with duplication of the hallux
- Polydactyly Nagoya, Pdn: A new mutant gene in the mouse
- Polydactyly, triphalangism of the thumb, and carpal abnormalities in a family
- Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg
- Preaxial hallucal polydactyly as a marker for diabetic embryopathy
- Proximal femoral focal deficiency associated with fibular duplication and diplopodia and complete agenesis of the tibia: a case report
- Short rib syndrome--Beemer type in sibs
- Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?
- Short rib-polydactyly syndrome, Majewski type
- Supernumerary and absent limbs and digits of the lower limb: a review of the literature
- Syndrome of tibial hypoplasia with polydactyly-syndactyly in two generations
- Thalidomide and neurotrophism
- The effects of 5-fluorouracil and 5-fluorodeoxyuridine used alone and in combination with normal nucleic acid precursors on development of mice in lines selected for low and high expression of Strong's luxoid gene
- The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation Hemimelia-extra toe (Hmx)
- Tibia vara in a patient with Bardet-Biedl syndrome
- Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis
- Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
- Tibial hemimelia and femoral bifurcation
- Tibial hemimelia in one of the identical twins
- Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report
- Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report
- Tibial hypo-/aplasia with preaxial syn- and polydactyly
- Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia
- Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father
- Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields
- Two siblings with bilateral congenital knee dislocations: case report
- Unilateral duplication of the great toe with anterolateral tibial bowing
- ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers
- ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers