The authors present the clinical and radiological findings of two siblings in whom two previously unpublished heterozygous cis-variants (c.236T>G and c.251A>C ) in the MMP13 gene were identi- fied by genetic testing. We propose to use the name “Metaphyseal anadysplasia with varus femurs and small kneecaps” for this newly described variant of metaphyseal anadysplasia type 1.

• Keywords
• metafyzární anadysplazie,
• MeSH
• Femur abnormalities   growth & development   MeSH
• Genu Varum diagnosis   etiology   MeSH
• Humans MeSH
• Patella abnormalities   growth & development   MeSH
• Child, Preschool MeSH
• Radiography methods   MeSH
• Siblings MeSH
• Lower Extremity Deformities, Congenital diagnostic imaging   diagnosis   complications   MeSH
• Bone Diseases, Developmental * diagnostic imaging   diagnosis   classification   congenital   MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Case Reports MeSH
• Geographicals
• Czech Republic MeSH

Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are two distinct clinically overlapping syndromes caused by de novo heterozygous truncating mutations in the KAT6B gene encoding lysine acetyltransferase 6B, a part of the histone H3 acetyltransferase complex. We describe an 8-year-old girl with a KAT6B mutation and a combined GPS/SBBYSS phenotype. The comparison of this patient with 61 previously published cases with KAT6B mutations and GPS, SBBYSS or combined GPS/SBBYSS phenotypes allowed us to separate the KAT6B mutations into four groups according to their position in the gene (reflecting nonsense mediated RNA decay and protein domains) and their clinical outcome. We suggest that mutations in mid-exon 18 corresponding to the C-terminal end of the acidic (Asp/Glu-rich) domain of KAT6B may have more variable expressivity leading to GPS, SBBYSS or combined phenotypes, in contrast to defects in other regions of the gene which contribute more specifically to either GPS or SBBYSS. Notwithstanding the clinical overlap, our cluster analysis of phenotypes of all known patients with KAT6B mutations supports the existence of two clinical entities, GPS and SBBYSS, as poles within the KAT6B-related disease spectrum. The awareness of these phenomena is important for qualified genetic counselling of patients with KAT6B mutations.

• MeSH
• Blepharophimosis diagnosis   genetics   MeSH
• Child MeSH
• Exons * MeSH
• Facies MeSH
• Phenotype MeSH
• Histone Acetyltransferases genetics   MeSH
• Congenital Hypothyroidism diagnosis   genetics   MeSH
• Craniofacial Abnormalities diagnosis   genetics   MeSH
• Kidney abnormalities   MeSH
• Humans MeSH
• Intellectual Disability diagnosis   genetics   MeSH
• Molecular Sequence Data MeSH
• Mutation * MeSH
• Joint Instability diagnosis   genetics   MeSH
• Patella abnormalities   MeSH
• Psychomotor Disorders diagnosis   genetics   MeSH
• Base Sequence MeSH
• Scrotum abnormalities   MeSH
• Urogenital Abnormalities diagnosis   genetics   MeSH
• Heart Defects, Congenital diagnosis   genetics   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

Kongenitální a habituální luxace pately, patela bipartita a syndrom symptomatické mediopatelární pliky patří mezi diagnosticky a terapeuticky nejčastější patologie v oblasti dětského patelo-femorálního kloubu vzniklé na podkladě vrozené poruchy, abnormality či vrozené anatomické variace. Terapie jednotlivých afekcí závisí na klinickém projevu patologie. Ve většině případů lze postupovat jak konzervativně, tak chirurgicky. Vrozená luxace pately je většinou indikována k časné chirurgické revizi. Patela bipartita je ve většině případů léčena konzervativně. Syndrom symptomatické mediopatelární pliky může být zaměněn za nález na chrupavce či menisku, artroskopická léčba má v případě správně stanovené diagnózy většinou dobrý výsledek.

Congenital and developmental dislocation of the patella, bipartite patella, and symptomatic medial plica plica syndrome belong amongst the diagnostically and therapeutically most frequent diagnoses in the region of the paediatric patello-femoral joint. Treatment depends on the clinical manifestation of the pathology. In most cases the treatment should be either conservative or surgical. Congenital dislocation of the patella is usually indicated to early surgical management. Bipatite patella is successfully treated conservatively in most cases. Medial plica syndrome can be misdiagnosed with medial cartilage or meniscal problem. Arthroscopic management has very good outcome in case of appropriate diagnosis.

• Keywords
• patela bipartitia, luxace, mediopatelární plika, syndrom laterální hyperprese pately,
• MeSH
• Arthroscopy MeSH
• Pain etiology   MeSH
• Joint Dislocations diagnosis   surgery   congenital   MeSH
• Child MeSH
• Infant MeSH
• Knee abnormalities   surgery   MeSH
• Contracture surgery   radiography   MeSH
• Humans MeSH
• Patellar Dislocation diagnosis   surgery   radiography   MeSH
• Adolescent MeSH
• Infant, Newborn MeSH
• Orthopedic Procedures MeSH
• Patella abnormalities   surgery   MeSH
• Patellofemoral Joint surgery   pathology   radiography   MeSH
• Movement Disorders diagnosis   etiology   therapy   MeSH
• Child, Preschool MeSH
• Syndrome MeSH
• Congenital Abnormalities MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Publication type
• Review MeSH

The absence of active knee extension in cerebral palsy patients is often due to elevation of the patellar ligament causing the patella to run outside the intercondylar groove. Distal patellar realignment can be achieved by either patellar ligament shortening or transposition of the patellar ligament distally. MATERIAL In the 1992-2008 period we indicated 95 knees for the distal realignment procedure involving a bone block in children 12 to 18 years old, and 46 knees in children aged between 8 and 16 years for shortening of the patellar ligament using the method of rafage in the early period, and modified plication from 2003. METHODS Clinical and radiographic findings were evaluated pre-operatively and at 6 weeks, 6 months and 1 year after surgery. In the cases treated by patellar ligament shortening, the Insall-Salvati index was assessed post-operatively Physical examination included local findings and the patient's ability to change locomotion. RESULTS Improved locomotion and maintenance of knee extension during standing and walking were recorded in 89 of the 95 knees with distal patellar realignment (93.68%) and in 40 of the 46 kness with patellar ligament shortening (86.96%). DISCUSSION Distal realignment of the patellar ligament or its shortening should be indicated as a follow-up treatment after muscular balance has been gained at persistent knee joint flexion during standing and walking, and the inability of active extension. The distal realignment procedure with a bone block should be indicated only after growth cessation because otherwise genu recurvatum may develop. Concurrently with this procedure, it is necessary to carry out distal realignment of the proximal ligament of the rectus femoris muscle. CONCLUSIONS Shortening of the patellar ligament using modified plication or its distal realignment involving a bone block are two options for the treatment of patella alta that is indicated in the absence of active knee extension in cerebral palsy patients

• MeSH
• Child MeSH
• Humans MeSH
• Patellar Ligament surgery   MeSH
• Adolescent MeSH
• Cerebral Palsy complications   pathology   MeSH
• Orthopedic Procedures methods   MeSH
• Patella abnormalities   surgery   physiopathology   MeSH
• Child, Preschool MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH

Patella bipartita, neboli kongenitální fragmentace či synchondróza pately, je velmi vzácnou patologií, postihující 2-6 % populace. Ve většině případů je patella bipartita asymptomatická. V případě nadměrné zátěže patelo-femorálního kloubu či následkem traumatu může dojít k iniciaci bolestivých symptomů. V diagnostickém řetězci je podstatné zvolit adekvátní vyšetření, kromě důsledného klinického vyšetření a detailního odběru anamnézy je důležitá axiální projekce na patelu, či magnetická rezonance. Většina bolestivých patel bipartit reaguje dobře na vhodně zvolenou konzervativní terapii. V případě prolongovaných symptomů bez reakce na konzervativní léčbu je na místě zvážení operačního řešení zahrnující excisi akcesorního fragmentu, povolení laterálních retinakul, či separaci laterálního vastu od akcesorního fragmentu pately. Všechny tři zmíněné metody mají dlouhodobě dobré výsledky. Osteosyntéza fragmentů je volena jen velmi vzácně a ve specifických indikacích.

Bipartite patella or congenital fragmentation of the patella is a rare condition involving 2-6% of population. In most cases, bipartite patella appears to be asymptomatic. In the case of an extensive overload or after a trauma, pre-existing bipartite patella can become symptomatic and painful. In addition to medical history and proper clinical examination, the most important in the diagnosis of bipartite patella are skyline views for patella or MRI imaging. Most of the painful bipartite patellae respond well to conservative treatment. Where symptoms persevere despite the conservative treatment measures, surgery may be indicated. The surgery includes surgical excision of the accessory fragment, lateral retinacular release or lateral vastus desinsertion from the accessory fragment. All the options have been reported with good long-term outcomes. Open osteosynthesis is indicated rarely and for specific indications only.

• MeSH
• Arthralgia diagnosis   etiology   surgery   MeSH
• Arthroscopy MeSH
• Pain etiology   MeSH
• Knee Joint surgery   MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Pain Management MeSH
• Orthopedic Procedures methods   MeSH
• Patella abnormalities   surgery   pathology   MeSH
• Knee Injuries complications   MeSH
• Radiography MeSH
• Treatment Outcome MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

• Keywords
• trochleoplastika, trochleární dysplazie, realignment pately, femorální prominence,
• MeSH
• Surgical Procedures, Operative methods   MeSH
• Adult MeSH
• Femur abnormalities   pathology   MeSH
• Knee Joint MeSH
• Humans MeSH
• Young Adult MeSH
• Joint Instability surgery   MeSH
• Patella abnormalities   surgery   pathology   MeSH
• Statistics as Topic MeSH
• Treatment Outcome MeSH
• Outcome and Process Assessment, Health Care MeSH
• Plastic Surgery Procedures methods   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH

• MeSH
• Child MeSH
• Knee Joint abnormalities   surgery   MeSH
• Humans MeSH
• Adolescent MeSH
• Orthopedic Procedures methods   MeSH
• Ilium surgery   MeSH
• Patella abnormalities   MeSH
• Bone Malalignment surgery   congenital   MeSH
• Lower Extremity Deformities, Congenital surgery   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH

• MeSH
• Adolescent MeSH
• Osteochondrodysplasias MeSH
• Patella abnormalities   MeSH
• Check Tag
• Adolescent MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

• MeSH
• Patella abnormalities   surgery   MeSH