Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report

Sharma, Anka; Upmanyu, Anirudh; Parate, Amit R; Kasat, Vikrant O

doi:10.1016/j.jobcr.2021.07.006

Cited by 3 publications

(2 citation statements)

References 16 publications

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“…Based on examination of the full texts of these papers, 84 studies 3 4 5 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 ...…”

Section: Resultsmentioning

confidence: 99%

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Gonzaga,

Costa,

Morais

et al. 2024

Imaging Sci Dent

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Purpose Pycnodysostosis (PYCD), an autosomal recessive syndrome, is characterized by an imbalance in bone remodeling that produces various clinical and radiographic craniofacial manifestations. This review represents a systematic examination of these manifestations, as well as oral features associated with PYCD. Materials and Methods A systematic review was conducted across 8 databases from February to March 2023. The search strategy focused on studies reporting cases of PYCD that examined the clinical and radiographic craniofacial and oral characteristics associated with this syndrome. Results The review included 84 studies, encompassing a total of 179 cases of PYCD. More than half of the patients were female (55.3%), and the mean age was 14.7 years. Parental consanguinity was reported in 51.4% of the cases. The most common craniofacial clinical manifestation was a prominent nose, observed in 57.5% of cases. Radiographically, the most frequently reported craniofacial characteristics included the presence of an obtuse mandibular angle (84.3%) and frontal cranial bosses (82.1%). Clinical and radiographic examinations revealed oral alterations, with micrognathia present in 62.6% of patients and malocclusion in 59.2%. Among dental anomalies, tooth agenesis was the most commonly reported, affecting 15.6% of patients. Conclusion Understanding the clinical and radiographic craniofacial features of PYCD is crucial for dental professionals. This knowledge enables these clinicians to devise effective treatment plans and improve patient quality of life.

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Section: Resultsmentioning

confidence: 99%

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Gonzaga,

Costa,

Morais

et al. 2024

Imaging Sci Dent

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show abstract

“…These often include a restricted range of joint mobility, skeletal deformities such as genu valgum (knock-knees) and genu varum (bow-legs), and abnormal curvature of the spine [ 5 ]. These issues can significantly impact the quality of life of affected individuals, as they may face challenges in mobility, physical activity, and general self-care [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder

Faraji,

Nikkhah,

Goli

et al. 2023

International Journal of Surgery Case Reports

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Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature

Yadav,

Dixit,

Malhotra

et al. 2023

Journal of Primary Care Dentistry and Oral Health

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Bone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decreased bone turnover. Some of the unique radiographic and clinical features distinguish it from other bone disorders, such as osteogenesis imperfect, osteopetrosis, and cleidocranial dysplasia. Recognition of these signs is important to make a diagnosis and prevent further complications. We report a case of a 24-year-old male, who presented with a chief complaint of dirty and malaligned teeth and was unhappy with his facial appearance. General examination features which drew attention were short stature, beaking of the nose, and frontal and parietal bossing. Radiographically, open fontanelles, wormian bones, and dental abnormalities were evident.

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Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report

Cited by 3 publications

References 16 publications

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder

Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature

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