Pycnodysostosis: A rare cause of short stature

Rajan, Alaguvel; Singh, Vikram; Bhave, Anupama A.; Joshi, Chintan

doi:10.1016/j.mjafi.2014.11.001

Cited by 10 publications

(9 citation statements)

References 4 publications

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“…5,a). In pyknodysostosis, the hyperdense vertebrae show prominent anterior defects that give spool-shaped vertebrae [18], (Fig. 5, e).…”

Section: Spine X-ray Clue Signsmentioning

confidence: 99%

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Skeletal Dysplasia: Approach to Simplify Diagnosis, Looking for Radiographic Clue Signs

Tabban¹,

Salem

2022

AJMAH

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Skeletal dysplasia is a heterogeneous group of disorders affecting the growth of bones and cartilage. Diagnosis can be difficult for many reasons; they are over 400 diseases, and some are rare and might have atypical presentation when clinical manifestations and radiological findings might not match the classical picture of the specific disorder. The final diagnosis of a skeletal dysplasia is a combined workup that includes clinical examination, family history, radiological assessment (skeletal survey and other investigations), and finally the laboratory, molecular and genetic assessment. These all steps require tertiary centers, therefore, the primary clinical practice would require a tool-kit to help identify the most common skeletal dysplasia easily and identify the most important features of uncommon or rare disorders. The combined clinical assessment and radiological assessment can together reach this goal. The aim of this article is to spotlight on few important checkpoints to help the clinician and radiologist to narrow the differential diagnosis in the primary evaluation before the referral, if available, for molecular and genetic study. This article will focus on essential initial steps in diagnosis and some clue diagnostic features in the skeletal survey images that are classic for the most common disorders.

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“…5,a). In pyknodysostosis, the hyperdense vertebrae show prominent anterior defects that give spool-shaped vertebrae [18], (Fig. 5, e).…”

Section: Spine X-ray Clue Signsmentioning

confidence: 99%

“…In MPS, hand x-ray shows the short wide phalanges and fan-shaped base of metacarpals [10]. Acro-osteolysis with dense bones can confirm the diagnosis of pyknodysostosis [18]. The cone-shaped epiphysis is a sign of trichorhinophalangeal syndrome [21], (Fig.…”

Section: Hand X-ray Clue Signsmentioning

confidence: 99%

Skeletal Dysplasia: Approach to Simplify Diagnosis, Looking for Radiographic Clue Signs

Tabban¹,

Salem

2022

AJMAH

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“…Differentiation from osteopetrosis solely on the basis of spinal radiograph is not often possible. Typical imaging findings include “spool shaped” vertebrae,[ 31 ] acro-osteolysis of distal phalanges of hands/feet, obtuse mandibular angles, and wide open cranial sutures [ Figure 18 ]. [ 32 ]…”

Section: Specific Disease Entitiesmentioning

confidence: 99%

Spine radiograph in dysplasias: A pictorial essay

Gabra

Jana

Naranje

et al. 2020

Indian Journal of Radiology and Imaging

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Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more value as a part of the complete skeletal survey. In this article we will discuss about a few common lethal and non-lethal skeletal dysplasias and their characteristic imaging findings; primarily focusing on the spine radiograph.

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“…We report a 29-year old woman clinically diagnosed with PYCD in early childhood who has encountered over 30 fractures with delayed healing and most resulted in non-union. At the age of 25 years, we observed persistently low levels of alkaline phosphatase (ALP), an uncommon biochemical finding of PYCD [2,4,8,[16][17][18]. Genetic analysis identified the coexistence of a novel presumed pathogenic heterozygous variant in ALPL.…”

Section: Introductionmentioning

confidence: 98%

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

et al. 2019

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Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones and recurrent fractures, caused by variants in the Cathepsin K encoding gene (CTSK) that leads to impaired osteoclast mediated bone resorption. Hypophosphatasia (HPP) is a dominant or recessive inherited condition representing a heterogeneous phenotype with dental symptoms, recurrent fractures and musculoskeletal problems. The disease results from mutation(s) in the tissue-nonspecific alkaline phosphate (TNSALP) encoding gene (ALPL) with reduced activity of alkaline phosphatase (ALP) and secondarily defective mineralization of bone and teeth. Here, we present the first report of a patient with the coexistence of PYCD and HPP. This patient presented typical clinical findings of PYCD, including short stature, maxillary hypoplasia and sleep apnoea. However, the burden of disease was caused by over 30 fractures, whereupon most showed delayed healing and non-union. Biochemical analysis revealed supressed bone resorption and low bone formation capacity. We suggest that the coexistence of impaired bone resorption and mineralization may explain the severe bone phenotype with poor fracture healing.

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Pycnodysostosis: A rare cause of short stature

Cited by 10 publications

References 4 publications

Skeletal Dysplasia: Approach to Simplify Diagnosis, Looking for Radiographic Clue Signs

Skeletal Dysplasia: Approach to Simplify Diagnosis, Looking for Radiographic Clue Signs

Spine radiograph in dysplasias: A pictorial essay

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

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