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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1993 2
1995 1
2000 1
2001 1
2002 1
2005 2
2006 1
2007 1
2010 1
2012 1
2014 1
2015 1
2016 1
2017 2
2018 1
2024 0

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16 results

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Page 1
Thyroid diseases and bone health.
Williams GR, Bassett JHD. Williams GR, et al. J Endocrinol Invest. 2018 Jan;41(1):99-109. doi: 10.1007/s40618-017-0753-4. Epub 2017 Aug 29. J Endocrinol Invest. 2018. PMID: 28853052 Free PMC article. Review.
Childhood hypothyroidism causes delayed skeletal development, retarded linear growth and impaired bone mineral accrual. Epiphyseal dysgenesis is evidenced by classic features of stippled epiphyses on X-ray. ...
Childhood hypothyroidism causes delayed skeletal development, retarded linear growth and impaired bone mineral accrual. Epiphyseal dy …
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.
Kumar S, Suthar R, Sharda S, Panigrahi I, Marwaha RK. Kumar S, et al. J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):185-8. doi: 10.1515/jpem-2013-0184. J Pediatr Endocrinol Metab. 2014. PMID: 24030027 Review.
The characteristic radiological features included anomalous ossification (epiphyseal stippling). We also discuss main differential diagnoses of epiphyseal stippling and a brief literature review....
The characteristic radiological features included anomalous ossification (epiphyseal stippling). We also discuss main differen …
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.
Guibaud L, Collardeau-Frachon S, Lacalm A, Massoud M, Rossi M, Cordier MP, Vianey-Saban C. Guibaud L, et al. J Inherit Metab Dis. 2017 Jan;40(1):103-112. doi: 10.1007/s10545-016-9992-3. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853988 Review.
They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses. ...
They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic k …
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC. Rossi M, et al. Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Pediatr Radiol. 2015. PMID: 25646736 Review.
Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal …
Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD sy …
Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.
Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR. Agarwal VK, et al. Am J Med Genet A. 2005 Jul 30;136(3):233-41. doi: 10.1002/ajmg.a.30805. Am J Med Genet A. 2005. PMID: 15954110 Review.
We report on a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulnar epiphyseal and pubic punctate calcifications (stippling), mega-epiphyses, platyspondyly, anterior beaking of the vert …
We report on a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulna …
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
Kang SS, Shin SH, Auh CK, Chun J. Kang SS, et al. Exp Mol Med. 2012 Dec 31;44(12):707-22. doi: 10.3858/emm.2012.44.12.080. Exp Mol Med. 2012. PMID: 23143559 Free PMC article. Review.
These diseases are characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly, and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses, and ap …
These diseases are characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly, and striking irregular …
Non-cardiac manifestations of neonatal lupus erythematosus.
Silverman E, Jaeggi E. Silverman E, et al. Scand J Immunol. 2010 Sep;72(3):223-5. doi: 10.1111/j.1365-3083.2010.02443.x. Scand J Immunol. 2010. PMID: 20696019 Free article. Review.
The most unusual feature of NLE is the radiographic finding of stippling of the epiphyses (chondrodysplasia punctata). Overall, non-cardiac involvement of NLE is more common than cardiac. ...
The most unusual feature of NLE is the radiographic finding of stippling of the epiphyses (chondrodysplasia punctata). Overall …
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R. Mason DE, et al. Spine (Phila Pa 1976). 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. Spine (Phila Pa 1976). 2002. PMID: 12634559 Review.
BACKGROUND DATA: Our purpose was to describe the deformities, natural history, and course of treatment in chondrodysplasia punctata, a skeletal dysplasia characterized by stippled epiphysis in infancy, short stature, and progressive kyphoscoliosis. ...
BACKGROUND DATA: Our purpose was to describe the deformities, natural history, and course of treatment in chondrodysplasia punctata, a skele …
Airway manifestations of chondrodysplasia punctata.
Seguin JH, Baugh RF, McIntee RA. Seguin JH, et al. Int J Pediatr Otorhinolaryngol. 1993 May;27(1):85-90. doi: 10.1016/0165-5876(93)90040-a. Int J Pediatr Otorhinolaryngol. 1993. PMID: 8314671 Review.
Chondrodysplasia punctata is a heterogeneous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, referred to as stippled epiphyses, with subsequent epiphysial dysplasia and associated anomalies of the f …
Chondrodysplasia punctata is a heterogeneous skeletal dysplasia characterized by small focal calcifications in articular and other cartilage …
Chondrodysplasia punctata: case report and review of audiological and ENT features.
Murdin L, Sirimanna T, Hartley BE, Holder SE. Murdin L, et al. J Laryngol Otol. 2006 Mar;120(3):233-6. doi: 10.1017/S002221510500472X. Epub 2005 Nov 25. J Laryngol Otol. 2006. PMID: 16359148 Review.
Chondrodysplasia punctata is a term referring to a clinically heterogeneous group of bone and cartilage dysplasias which cause characteristic epiphyseal stippling. The condition can involve the ear, nose and throat in diverse ways at many levels. ...
Chondrodysplasia punctata is a term referring to a clinically heterogeneous group of bone and cartilage dysplasias which cause characteristi …
16 results