Sclerosing bone dysplasias with involvement of the craniofacial skeletonWATERVAL, J. J; BORRA, V. M; VAN HUL, W et al.Bone (New York, NY). 2014, Vol 60, pp 48-67, issn 8756-3282, 20 p.Article

TRPV4-Associated Skeletal DysplasiasNISHIMURA, Gen; LAUSCH, Ekkehart; SAVARIRAYAN, Ravi et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 190-204, issn 1552-4868, 15 p.Article

Camurati-Engelmann disease: Review of radioclinical featuresVANHOENACKER, F. M; JANSSENS, K; VAN HUL, W et al.Acta radiologica (1987). 2003, Vol 44, Num 4, pp 430-434, issn 0284-1851, 5 p.Article

Die Bedeutung der Sonographie bei der Untersuchung der Säuglingshüfte = Importance de l'ultrasonographie dans l'examen de la hanche de l'enfant = The importance of ultrasonography in the infant hip examinationGRAF, R.Biomedizinische Technik. 1983, Vol 28, Num 11, pp 257-263, issn 0013-5585Article

Slender Bone Dysplasia (Gracile)NYHOLM, Jessica L; LINDOR, Noralane M; THOMAS, Kristen B et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 24, pp 3234-3236, issn 1552-4825, 3 p.Article

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasiaSIMPSON, M. A; SCHEUERLE, A; HURST, J et al.Clinical genetics. 2009, Vol 75, Num 3, pp 271-276, issn 0009-9163, 6 p.Article

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasiaPRACHI PRAGYA AGARWAL; SRINIVASAN, Ashok; SHARMA, Raju et al.Pediatric radiology. 2003, Vol 33, Num 12, pp 893-896, issn 0301-0449, 4 p.Article

Atelosteogenesis type III : a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type IISTERN, H. J; GRAHAM, J. M; LACHMAN, R. S et al.American journal of medical genetics. 1990, Vol 36, Num 2, pp 183-195, issn 0148-7299, 13 p.Article

Visceral manifestations of hypochondrogenesisWAINWRIGHT, Helen; BEIGHTON, Peter.Virchows Archiv. 2008, Vol 453, Num 2, pp 203-207, issn 0945-6317, 5 p.Article

Van Buchem disease: lifetime evolution of radioclinical featuresVANHOENACKER, Filip M; BALEMANS, Wendy; TAN, Gregorius J et al.Skeletal radiology. 2003, Vol 32, Num 12, pp 708-718, issn 0364-2348, 11 p.Article

Cerebral vasospasm after auditory brainstem implantation in a patient with hyperostosis cranialis internaWATERVAL, J. J; STOKROOS, R. J; DINGS, J et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2011, Vol 113, Num 10, pp 904-908, issn 0303-8467, 5 p.Article

A Phenotype Intermediate Between Desbuquois Dysplasia and Diastrophic Dysplasia Secondary to Mutations in DTDSTPANZER, K. M; LACHMAN, R; MODAFF, P et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 22, pp 2920-2924, issn 1552-4825, 5 p.Article

Sex steroid hormone receptors in normal and dysplastic bone disorders in childrenPENSLER, J. M; LANGMAN, C. B; RADOSEVICH, J. A et al.Journal of bone and mineral research (Print). 1990, Vol 5, Num 5, pp 493-498, issn 0884-0431Article

Syndromes létaux avec gracilité du squelette = Lethal syndromes with thin bonesMAROTEAUX, P; COHEN-SOLAL, L; BONAVENTURE, J et al.Archives françaises de pédiatrie. 1988, Vol 45, Num 7, pp 477-481, issn 0003-9764Article

Distinctive skeletal dysplasia in Cockayne syndromeCIRILLO SILENGO, M; FRANCESCHINI, P; BIANCO, R et al.Pediatric radiology. 1986, Vol 16, Num 3, pp 264-266, issn 0301-0449Article

The Erlenmeyer Flask Bone Deformity in the Skeletal DysplasiasFADEN, Maha A; KRAKOW, Deborah; EZGU, Fatih et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1334-1345, issn 1552-4825, 12 p.Article

Schimke immuno-osseous dysplasia: two casesTYLKI-SZYMANSKA, Anna; PYRKOSZ, Antoni; KRAJEWSKA-WALASEK, Malgorzata et al.Pediatric radiology. 2003, Vol 33, Num 3, pp 216-218, issn 0301-0449, 3 p.Article

A pragmatic approach to the radiologic diagnosis of pediatric syndromes and skeletal dysplasiasMARKOWITZ, Richard I; ZACKAI, Elaine.The Radiologic clinics of North America. 2001, Vol 39, Num 4, issn 0033-8389, xi, 791-802 [13 p.]Article

Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pumpYAMAMOTO, T; KURIHARA, N; YAMAOKA, K et al.The Journal of clinical investigation. 1993, Vol 91, Num 1, pp 362-367, issn 0021-9738Article

3-M syndrome. Comment. ReplyFLANNERY, D. B; HENNEKAM, R. C. M; SPRANGER, J et al.American journal of medical genetics. 1989, Vol 32, Num 2, pp 252-254, issn 0148-7299Article

Clinicopathologic study of cemento-osseous dysplasia producing cysts of the mandible. Report of four casesHIGUCHI, Y; NAKAMURA, N; TASHIRO, H et al.Oral surgery, oral medicine, oral pathology. 1988, Vol 65, Num 3, pp 339-342, issn 0030-4220Article

Familial florid osseous dysplasia: a case reportMUSELLA, A. E; SLATER, L. J.Journal of oral and maxillofacial surgery. 1989, Vol 47, Num 6, pp 636-640, issn 0278-2391Article

Severe Lateral Tibial Bowing With Short Stature in Two Siblings—A Provisionally Novel SyndromeZITANO, Lia; LODER, Randall T; COHEN, Mervyn D et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2309-2316, issn 1552-4825, 8 p.Article

Clinical and Radiologic Findings in an Adult Male With DysosteosclerosisLEMIRE, Edmond G; WIEBE, Sheldon.American journal of medical genetics. Part A. 2008, Vol 146, Num 4, pp 474-478, issn 1552-4825, 5 p.Article

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYSSANTOS, Heloisa G; ALMEIDA, Maria; FERNANDES, Helena et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 4, pp 355-359, issn 1552-4825, 5 p.Article