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

Year Number of Results
1987 1
1988 3
1989 1
1990 2
1994 2
1995 1
1997 4
2000 5
2001 1
2002 1
2003 1
2004 1
2005 1
2007 5
2008 5
2009 3
2010 4
2012 2
2013 2
2014 3
2015 2
2016 6
2017 2
2018 4
2020 2
2021 4
2022 3
2023 3
2024 3

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71 results

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Page 1
Rickets guidance: part I-diagnostic workup.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D. Haffner D, et al. Pediatr Nephrol. 2022 Sep;37(9):2013-2036. doi: 10.1007/s00467-021-05328-w. Epub 2021 Dec 15. Pediatr Nephrol. 2022. PMID: 34910242 Free PMC article. Review.
Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal frayi …
Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. The diagnosis of rickets is …
Acromegaly.
Chanson P, Salenave S. Chanson P, et al. Orphanet J Rare Dis. 2008 Jun 25;3:17. doi: 10.1186/1750-1172-3-17. Orphanet J Rare Dis. 2008. PMID: 18578866 Free PMC article. Review.
The forehead and overlying skin is thickened, sometimes leading to frontal bossing. There is a tendency towards mandibular overgrowth with prognathism, maxillary widening, tooth separation and jaw malocclusion. ...
The forehead and overlying skin is thickened, sometimes leading to frontal bossing. There is a tendency towards mandibular ove …
Sagittal synostosis.
Jane JA Jr, Lin KY, Jane JA Sr. Jane JA Jr, et al. Neurosurg Focus. 2000 Sep 15;9(3):e3. doi: 10.3171/foc.2000.9.3.4. Neurosurg Focus. 2000. PMID: 16833254 Review.
Sagittal synostosis causes predictable malformations depending on the specific suture location that fuses. Anterior fusion causes frontal bossing, whereas posterior fusion causes an occipital knob. ...
Sagittal synostosis causes predictable malformations depending on the specific suture location that fuses. Anterior fusion causes frontal …
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L. Larizza L, et al. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.
Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII characterised by poikiloderma, congenital bone defects and an increased risk of osteosarcoma in childhood and skin cancer later in life. The …
Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII c …
Craniosynostosis.
Kabbani H, Raghuveer TS. Kabbani H, et al. Am Fam Physician. 2004 Jun 15;69(12):2863-70. Am Fam Physician. 2004. PMID: 15222651 Free article. Review.
Examining an infant's head from above can help the physician distinguish true lambdoid synostosis from deformational plagiocephaly. In infants with lambdoid synostosis, the posterior bossing is in the parietal area contralateral to the flat part of the head. Deformational …
Examining an infant's head from above can help the physician distinguish true lambdoid synostosis from deformational plagiocephaly. In infan …
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and upli …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, fronta …
Disease-specific complications and multidisciplinary interventions in achondroplasia.
Kitoh H, Matsushita M, Mishima K, Kamiya Y, Sawamura K. Kitoh H, et al. J Bone Miner Metab. 2022 Mar;40(2):189-195. doi: 10.1007/s00774-021-01298-z. Epub 2022 Jan 14. J Bone Miner Metab. 2022. PMID: 35028714 Review.
Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with frontal bossing, exaggerated lumbar lordosis, and trident hands. It is induced by activated mutations in the fibroblast growth factor …
Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with front …
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X, Jiang S, Zhang R, Guo S, Sheng Q, Wang K, Shan Y, Liao L, Dong J. Zhang X, et al. Orphanet J Rare Dis. 2024 Jan 27;19(1):29. doi: 10.1186/s13023-024-03031-1. Orphanet J Rare Dis. 2024. PMID: 38281003 Free PMC article. Review.
Short stature with shortened arms and legs was found in 112(112/112) patients, the abnormalities of macrocephaly in 94(94/112) patients, frontal bossing in 89(89/112) patients, genu valgum in 64(64/112) patients and trident hand were found in 51(51/112) patients. .. …
Short stature with shortened arms and legs was found in 112(112/112) patients, the abnormalities of macrocephaly in 94(94/112) patients, …
A review of the oro-dento-facial characteristics of hereditary sensory and autonomic neuropathy type III (familial dysautonomia).
Mass E. Mass E. Spec Care Dentist. 2012 Jan-Feb;32(1):15-20. doi: 10.1111/j.1754-4505.2011.00225.x. Spec Care Dentist. 2012. PMID: 22229594 Review.
The subjects can have gray, pale, shiny faces with an asymmetric suffering expression; frontal bossing, with eventual hypertelorism and narrow lips; a low-caries rate; drooling, and hypersalivation. ...
The subjects can have gray, pale, shiny faces with an asymmetric suffering expression; frontal bossing, with eventual hypertel …
The Greig cephalopolysyndactyly syndrome.
Biesecker LG. Biesecker LG. Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Orphanet J Rare Dis. 2008. PMID: 18435847 Free PMC article. Review.
The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. ...
The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most com …
71 results