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Year Number of Results
1989 1
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1991 1
1992 1
1994 1
1996 2
1997 1
1998 1
1999 1
2001 3
2002 1
2003 1
2004 4
2005 1
2006 2
2008 3
2010 3
2011 4
2012 3
2014 3
2015 7
2016 2
2017 2
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62 results

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Page 1
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A. Haffner D, et al. Nat Rev Nephrol. 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. Nat Rev Nephrol. 2019. PMID: 31068690 Free PMC article.
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children …
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as …
Bone dysplasia.
Linglart A, Merzoug V, Lambert AS, Adamsbaum C. Linglart A, et al. Ann Endocrinol (Paris). 2017 Jun;78(2):114-122. doi: 10.1016/j.ando.2017.04.011. Epub 2017 May 8. Ann Endocrinol (Paris). 2017. PMID: 28495326 Review.
Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features su …
Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreas …
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S. Melbouci M, et al. Mol Genet Metab. 2018 May;124(1):1-10. doi: 10.1016/j.ymgme.2018.03.004. Epub 2018 Mar 16. Mol Genet Metab. 2018. PMID: 29627275 Free PMC article. Review.
These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive short stature. Growth impairment occurs due to the deposition and retention of GAGs in bone and cartilage. ...Imbalance of grow …
These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive …
Achondroplasia.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Baujat G, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. Best Pract Res Clin Rheumatol. 2008. PMID: 18328977 Review.
Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive developmen …
Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short …
Brachydactyly.
Temtamy SA, Aglan MS. Temtamy SA, et al. Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. Orphanet J Rare Dis. 2008. PMID: 18554391 Free PMC article. Review.
Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. ...To date, many different forms of brachydactyly have been identifi …
Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms pa …
Tall stature: a difficult diagnosis?
Meazza C, Gertosio C, Giacchero R, Pagani S, Bozzola M. Meazza C, et al. Ital J Pediatr. 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5. Ital J Pediatr. 2017. PMID: 28774346 Free PMC article. Review.
Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tall stature show a familial tall st …
Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a h …
Orthopedic concerns of a child with short stature.
Liau ZQG, Wang Y, Lin HY, Cheong CK, Gupta S, Hui JHP. Liau ZQG, et al. Curr Opin Pediatr. 2022 Feb 1;34(1):82-91. doi: 10.1097/MOP.0000000000001081. Curr Opin Pediatr. 2022. PMID: 34840250 Review.
PURPOSE OF REVIEW: Pediatric short stature poses severe concerns to the patient, parents, and physicians. ...This review will address the approach to pediatric short stature, commonly within the subset of skeletal dysplasia resulting in disproportio …
PURPOSE OF REVIEW: Pediatric short stature poses severe concerns to the patient, parents, and physicians. ...This review will …
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V. Cormier-Daire V. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328979 Review.
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with differing modes of inheritance, all defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities. The presenting symptom of SE …
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with differi …
The skeletal dysplasias.
Savarirayan R, Rimoin DL. Savarirayan R, et al. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60. doi: 10.1053/beem.2002.0210. Best Pract Res Clin Endocrinol Metab. 2002. PMID: 12464233 Review.
The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classific …
The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance …
New developments in the management of achondroplasia.
Högler W, Ward LM. Högler W, et al. Wien Med Wochenschr. 2020 Apr;170(5-6):104-111. doi: 10.1007/s10354-020-00741-6. Epub 2020 Mar 6. Wien Med Wochenschr. 2020. PMID: 32144686 Free PMC article. Review.
Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway …
Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permane …
62 results