Picnodisostose é uma doença genética rara caracterizada por baixa estatura, ossos mais densos que o normal e ossos frágeis (que quebram facilmente). Outras características podem incluir: pontas dos dedos subdesenvolvidas com unhas ausentes ou pequenas; um osso da saboneteira (clavícula) anormal; traços faciais peculiares, como cabeça grande com rosto e queixo pequenos, ossos da face que não se desenvolveram completamente, testa alta e problemas nos dentes. A picnodisostose é uma condição genética autossômica recessiva, o que significa que a pessoa só desenvolve a doença se herdar uma cópia do gene alterado de cada um dos pais (que geralmente não apresentam a doença). É causada por alterações (mutações) no gene que produz a enzima catepsina K (CTSK), localizado no cromossomo 1q21. O diagnóstico da picnodisostose se baseia nas características físicas do paciente e nos resultados de exames de raio-X. Testes genéticos moleculares estão disponíveis para confirmação. O tratamento deve ser individualizado, focando nos sintomas de cada paciente, e pode incluir: acompanhamento ortopédico (para os ossos e articulações), tratamento de fraturas (quebras dos ossos), cuidados dentários apropriados e cirurgias na cabeça e no rosto (craniofaciais).
Introdução
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Picnodisostose é uma doença genética rara caracterizada por baixa estatura, ossos mais densos que o normal e ossos frágeis (que quebram facilmente). Outras características podem incluir: pontas dos dedos subdesenvolvidas com unhas ausentes ou pequenas; um osso da saboneteira (clavícula) anormal; traços faciais peculiares, como cabeça grande com rosto e queixo pequenos, ossos da face que não se desenvolveram completamente, testa alta e problemas nos dentes. A picnodisostose é uma condição genética autossômica recessiva, o que significa que a pessoa só desenvolve a doença se herdar uma cópia do gene alterado de cada um dos pais (que geralmente não apresentam a doença). É causada por alterações (mutações) no gene que produz a enzima catepsina K (CTSK), localizado no cromossomo 1q21. O diagnóstico da picnodisostose se baseia nas características físicas do paciente e nos resultados de exames de raio-X. Testes genéticos moleculares estão disponíveis para confirmação. O tratamento deve ser individualizado, focando nos sintomas de cada paciente, e pode incluir: acompanhamento ortopédico (para os ossos e articulações), tratamento de fraturas (quebras dos ossos), cuidados dentários apropriados e cirurgias na cabeça e no rosto (craniofaciais).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 29 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation. Involved in the release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (PubMed:11082042)
LysosomeSecretedApical cell membrane
Pycnodysostosis
A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone.
Variantes genéticas (ClinVar)
154 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Picnodisostose
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting in short stature, characteristic facial features and long-bone fractures. Given its rarity, there is minimal information in the medical literature on management of pregnancies in women affected by pycnodysostosis. This report describes the antenatal, intrapartum and postnatal care of a 28-year-old nulliparous woman with a new diagnosis of pycnodysostosis during pregnancy. Throughout her care, involvement was sought from the moving and handling team, anaesthetics, geneticists and obstetricians to allow anticipation of potential complications. Mode of delivery was discussed, with a joint decision to opt for an elective caesarean section under regional anaesthesia at 37 weeks of gestation. In the postnatal period, the patient's recovery was complicated by a long-bone fracture, a recognised and important risk of pycnodysostosis. The report reflects on steps taken to mitigate fracture risk. However, the fall precipitating the fracture was the patient's own home, where she had lived for several years, and was therefore unforeseeable. This case highlights the importance both of a multidisciplinary approach and thorough antenatal care planning for women with rare and complex conditions in pregnancy, and of the risk of long-bone fracture in the postnatal period in women with pycnodysostosis. The report aims to increase awareness of this condition and provide an approach for the management of other women with pycnodysostosis.
Spontaneous Fracture of the Atlas in a Patient with Pycnodysostosis and Mandibular Osteomyelitis - A Case Report.
Mandibular osteomyelitis is a common complication in pycnodysostosis; however, spontaneous atlas fracture has not been previously reported. Persistent mandibular pain, swelling, and purulent discharge following tooth extraction, along with recent cervical discomfort. Left mandibular osteomyelitis and type 3 atlas (C1) fracture in a patient with a prior diagnosis of pycnodysostosis. Cervical immobilisation with a Philadelphia collar for 8 weeks, sequestrectomy under local anaesthesia, irrigation, debridement and targeted antibiotics. Favorable progress with no signs of infection or cervical symptoms after 6 months, along with partial bone healing in the mandible and stabilization of the C1 fracture. In patients with pycnodysostosis, maxillofacial procedures must include prior cervical evaluation. Vertebral fractures may occur without evident trauma and present with minimal symptoms, posing a high clinical risk if undetected.
Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.
Pycnodysostosis is a rare skeletal disorder often associated with craniofacial anomalies that may increase the propensity for obstructive sleep apnea (OSA). This retrospective study aimed to explore the prevalence and treatment of OSA in pediatric patients with Pycnodysostosis. To describe the clinical characteristics, polysomnographic findings, and treatment in 10 children with Pycnodysostosis. Retrospective study conducted at the Sleep Medicine Center of CHU Hassan II, Fès, Morocco of 10 children with Pycnodysostosis diagnosed between 2010 and 2024 and based on clinical and/or genetic criteria who underwent overnight polysomnography. All patients suffered from moderate to severe OSA (apnea-hypopnea index: 5.9-43.8 events/h). Treatment included adenoidectomy, tonsillectomy, and CPAP, the latter leading to near normalization of respiratory patterns and improvement in sleep quality. OSA in Pycnodysostosis imposes a significant impact on quality of life which responds favorably to stepwise interventions aimed at eliminating or mitigating OSA severity. This study highlights the importance of early diagnosis and appropriate treatment to prevent long-term complications, especially involving maxillofacial growth.
Head Trauma in Pycnodysostosis: An Imagiological Challenge.
A 10-year-old girl with a known diagnosis of pycnodysostosis presented to the emergency department after a traumatic head injury. Physical examination revealed a fluctuant triangular deformity in the parieto-occipital region, raising suspicion of a skull fracture. Computed tomography (CT) demonstrated heterogeneous bone density with radiated sclerosis of the parietal bones, consistent with her underlying condition, and a partial discontinuity of the lambdoid suture without signs of an acute fracture. A conservative, watchful approach was undertaken with complete recovery. This case highlights the diagnostic challenges posed by pycnodysostosis in differentiating acute trauma from chronic skeletal abnormalities.
When Bones Tell a Story: Diaphyseal Femoral Fracture in a Child With Pycnodysostosis.
Pycnodysostosis (PYCD) is a rare genetic disorder marked by generalized bone sclerosis and a high risk of fractures. On average, children with PYCD experience approximately 0.2 fractures per year, often complicated by delayed healing and poor bone remodeling. Surgical treatment of long bone fractures in patients with PYCD is scarcely documented in the literature, and orthopedic surgeons play a crucial role in managing the affected children. In this article, we present the case of an 11-year-old boy diagnosed with PYCD who presented to the pediatric surgery department for the management of a femoral diaphysis fracture, and we discuss the therapeutic difficulties.
Publicações recentes
Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.
Spontaneous Fracture of the Atlas in a Patient with Pycnodysostosis and Mandibular Osteomyelitis - A Case Report.
Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.
Head Trauma in Pycnodysostosis: An Imagiological Challenge.
📚 EuropePMC295 artigos no totalmostrando 129
Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.
Case reports in women's healthSpontaneous Fracture of the Atlas in a Patient with Pycnodysostosis and Mandibular Osteomyelitis - A Case Report.
Annals of maxillofacial surgeryPycnodysostosis and obstructive sleep apnea: Observations on 10 cases.
Respiratory medicine case reportsHead Trauma in Pycnodysostosis: An Imagiological Challenge.
CureusWhen Bones Tell a Story: Diaphyseal Femoral Fracture in a Child With Pycnodysostosis.
CureusFrom genotype to phenotype: the impact of early management in pycnodysostosis.
Endocrinology, diabetes & metabolism case reportsHealing fragile bones: a case report on hyperbaric oxygen therapy in pycnodysostosis.
Diving and hyperbaric medicineOral and maxillofacial manifestations of Pycnodysostosis: a summary of clinical, radiological and cephalometric diagnostic criteria. A systematic review.
Journal of stomatology, oral and maxillofacial surgeryPycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.
Frontiers in endocrinologyBone quality in pycnodysostosis: micropetrosis, locally distorted osteocyte lacuno-canalicular network, and heterogenous mineralization pattern in an adult female patient with multiple fractures.
JBMR plusCase Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.
International journal of molecular sciencesPycnodysostosis and severe laryngomalacia complicating general anesthesia: A case report.
Saudi journal of anaesthesiaPycnodysostosis: Clinical Insights From Two Siblings.
CureusLatent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAClinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series.
Journal of pharmacy & bioallied sciencesEffects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.
Hormone research in paediatricsPathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.
Journal of clinical medicineClinical and radiographic characteristics of pycnodysostosis: A systematic review.
Imaging science in dentistryPycnodysostosis: Characteristics of teeth, mouth and jaws.
Orthodontics & craniofacial researchPathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.
European journal of medical geneticsEvaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis.
CureusManagement of long bone fractures in patients with pycnodysostosis.
BMJ case reportsThe molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.
BoneOsteopetrosis: Gene-based nosology and significance.
BoneCase report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.
Frontiers in oral healthUnravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.
Journal of biomolecular structure & dynamicsPycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters.
Joint bone spinePycnodysostosis in children and adults.
BoneCTSK variant implicated in suspected pyknodysostosis in a domestic cat.
JFMS open reportsCathepsin K in Pathological Conditions and New Therapeutic and Diagnostic Perspectives.
International journal of molecular sciencesA rare case of pycnodysostosis during pregnancy.
Clinical case reportsSurgical treatment of pycnodysostosis associated with pathological tibial fracture : Case report and review of the literature.
Orthopadie (Heidelberg, Germany)Bilateral Atypical Subtrochanteric Femoral Fractures with Primary and Secondary Bone Healing in Pycnodysostosis.
Indian journal of orthopaedicsOrthopedic Treatment of Pycnodysostosis: A Systematic Review.
CureusPycnodysostosis; A Rare Disease Case Report.
Journal of Ayub Medical College, Abbottabad : JAMCClinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Molecular genetics & genomic medicineRecurrent fractures and an unusual diagnosis: Pycnodysostosis.
Journal of the National Medical AssociationObstructive sleep apnoea in pycnodysostosis: A three-dimensional upper airway analysis.
Orthodontics & craniofacial researchOverlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.
Case reports in geneticsGenetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
GenesPycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report.
Journal of oral biology and craniofacial researchPycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia.
AACE clinical case reportsBilateral subtrochanteric femoral fracture due to a very rare disease: Pycnodisostosis.
Revista espanola de cirugia ortopedica y traumatologia (English ed.)Pycnodysostosis: a case report and literature review concerning oral and maxillofacial complications and their management.
Oral surgery, oral medicine, oral pathology and oral radiologyChallenges in surgical orthopaedic treatment in a rare case of pycnodysostosis: Sometimes you win, sometimes you learn.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationThe genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
American journal of medical genetics. Part APhenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.
European journal of medical geneticsPycnodysostosis with Osteomyelitis of Maxilla: Case Report of Radiological Analysis.
Contemporary clinical dentistryIncreased Bone Resorption during Lactation in Pycnodysostosis.
International journal of molecular sciencesThree-dimensional analysis of craniofacial morphology in patients with pycnodysostosis.
Orthodontics & craniofacial researchOsteomyelitis of the jaws in patients with pycnodysostosis: a systematic review.
Brazilian journal of otorhinolaryngologyClinical and genetic evaluation of Danish patients with pycnodysostosis.
European journal of medical geneticsThe syndrome of Toulouse-Lautrec.
Journal of endocrinological investigationManagement of chronic suppurative osteomyelitis in a patient with pycnodysostosis.
General dentistryRare Cause of Pathological Fractures: Pycnodysostosis.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesA First-Case Report of Pycnodysostosis in an Omani Boy.
Journal of pediatric geneticsIntramedullary Canal-creation Technique for Patients with Osteopetrosis.
Strategies in trauma and limb reconstructionBilateral optic disc edema in a case of pycnodysostosis.
Journal francais d'ophtalmologieAlternative Method for Full Oral Rehabilitation in Patients with Pycnodysostosis Syndrome: A Case Report.
Clinical, cosmetic and investigational dentistryA Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment.
Journal of clinical research in pediatric endocrinologyPycnodysostosis presented with tibial shaft fracture.
The Pan African medical journalNumerous Heinz bodies in a case of infantile pyknocytosis.
BloodA rare case of pycnodysostosis: Technical difficulties in managing long bone fractures.
Journal of clinical orthopaedics and traumaWhole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.
Molecular genetics & genomic medicineGenetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.
BonePycnodysostosis in an Adult: A Case Report and Review of the Literature.
Ear, nose, & throat journalSleep-disordered breathing in children with pycnodysostosis.
American journal of medical genetics. Part AMultiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
Calcified tissue internationalPycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Clinical geneticsDisturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients.
Journal of orthopaedics[Pycnodysostosis: about a case].
The Pan African medical journalA Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report.
Clinical medicine insights. Case reportsClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.
Theranostics[Family picnodisostosis, report of a case after 10 years of follow-up].
Acta ortopedica mexicanaAnaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery.
Case reports in anesthesiologyMultisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?
The Journal of craniofacial surgeryGenetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.
JBMR plusNot all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.
The FEBS journalAn Update on Osteomyelitis Treatment in a Pycnodysostosis Patient.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsPycnodysostosis: the disease of Henri de Toulouse-Lautrec.
European journal of orthopaedic surgery & traumatology : orthopedie traumatologieGenetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAArticular cartilage protection in Ctsk-/- mice is associated with cellular and molecular changes in subchondral bone and cartilage matrix.
Journal of cellular physiologyShort stature and bone structure abnormalities in two siblings. Pycnodysostosis (also known as osteopetrosis acro-osteolytica).
Skeletal radiologyHuman Genetics of Sclerosing Bone Disorders.
Current osteoporosis reportsTraumatic cervical spine injuries in a patient with pycnodysostosis.
European journal of orthopaedic surgery & traumatology : orthopedie traumatologiePycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
Journal of pediatric geneticsPycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.
MedicineHighly Conserved Arg Residue of ERFNIN Motif of Pro-Domain is Important for pH-Induced Zymogen Activation Process in Cysteine Cathepsins K and L.
Cell biochemistry and biophysicsClinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems.
Case reports in dentistryClinical and radiographic features of pycnodysostosis: A case report.
Journal of clinical and experimental dentistryCathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.
Endocrine reviewsPycnodysostosis at otorhinolaryngology.
International journal of pediatric otorhinolaryngologyPycnodysostosis: Clinicoradiographic Report of a Rare Case.
Contemporary clinical dentistryA case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.
MedicineDistribution of Cathepsin K in Late Stage of Tooth Germ Development and Its Function in Degrading Enamel Matrix Proteins in Mouse.
PloS oneAccordion Maneuver with Modified Ilizarov Frame for treatment of recalcitrant nonunion of shaft of femur in a patient with Pycnodysostosis.
Journal of clinical orthopaedics and traumaBilateral choanal atresia in an adult woman with pycnodysostosis.
Congenital anomaliesInherited diseases caused by mutations in cathepsin protease genes.
The FEBS journalOrthopaedic disorders of pycnodysostosis: a report of five clinical cases.
International orthopaedicsShort stature Revealing a Pycnodysostosis: A Case Report.
Journal of orthopaedic case reportsMolecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
European journal of medical researchOral Lesions in Pycnodysostosis Syndrome: Eleven Years of Follow-Up.
The Journal of craniofacial surgeryEffects of cathepsin K on Emdogain-induced hard tissue formation by human periodontal ligament stem cells.
Journal of tissue engineering and regenerative medicine[Multiple long bone fractures in a child with pycnodysostosis. A case report].
Archivos argentinos de pediatriaPycnodysostosis: mutation spectrum in five unrelated Indian children.
Clinical dysmorphologyRisk of difficult intubation may increase with age in pediatric patients with pycnodysostosis.
Paediatric anaesthesiaCathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences.
Expert opinion on drug discoveryFrom disease to treatment: from rare skeletal disorders to treatments for osteoporosis.
EndocrinePycnodysostosis presenting as atypical stridor.
European annals of otorhinolaryngology, head and neck diseasesLeft clavicular fracture. Pyknodysostosis.
Skeletal radiologyPycnodysostosis: A rare cause of short stature.
Medical journal, Armed Forces IndiaPycnodysostosis with Special Emphasis on Dentofacial Characteristics.
Case reports in dentistryThe role of cathepsin K in oral and maxillofacial disorders.
Oral diseases[Pycnodysostosis, a case report].
Presse medicale (Paris, France : 1983)Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis.
Case reports in orthopedicsManagement of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy.
Journal of natural science, biology, and medicinePycnodysostosis with a patella fracture.
The lancet. Diabetes & endocrinologyMiscellaneous Bone Disorders.
Endocrine developmentAtypical femur fractures in a patient with pycnodysostosis: a case report.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAThe clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders.
Best practice & research. Clinical endocrinology & metabolismNovel targets for the prevention of osteoporosis - lessons learned from studies of metabolic bone disorders.
Expert opinion on therapeutic targetsPycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament.
Asian spine journalOsteomyelitis in pycnodysostosis - report of 2 clinical cases.
Journal of clinical and diagnostic research : JCDRPrimary osteolysis syndromes: beware of difficult airway.
Paediatric anaesthesiaDental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
Journal of dental researchA Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.
Calcified tissue internationalClinical and cephalometric analysis of three cases with pycnodysostosis: case reports.
Journal of Istanbul University Faculty of DentistryPycnodysostosis: A bone dysplasia with unusual oral manifestation.
Indian journal of dentistryMolecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.
International journal of clinical and experimental medicineAssociações
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.
- Spontaneous Fracture of the Atlas in a Patient with Pycnodysostosis and Mandibular Osteomyelitis - A Case Report.
- Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.
- Head Trauma in Pycnodysostosis: An Imagiological Challenge.
- When Bones Tell a Story: Diaphyseal Femoral Fracture in a Child With Pycnodysostosis.
- Editorial: Bone health and development in children and adolescents, volume II.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:763(Orphanet)
- OMIM OMIM:265800(OMIM)
- MONDO:0009940(MONDO)
- GARD:4611(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q974928(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
