Pyle disease (metaphyseal dysplasia)BEIGHTON, P.Journal of medical genetics. 1987, Vol 24, Num 6, pp 321-324, issn 0022-2593Article

Murk Jansen's metaphyseal chondrodysplasia with long-term followupSILVERTHORN, K. G; HOUSTON, C. S; DUNCAN, B. P et al.Pediatric radiology. 1987, Vol 17, Num 2, pp 119-123, issn 0301-0449Article

Brief clinical report: Sedaghatian congenital lethal metaphyseal chondrodysplasia ― observations in a second Iranian family and histopathological studiesOPITZ, J. M; SPRANGER, J. W; STOSS, H. R et al.American journal of medical genetics. 1987, Vol 26, Num 3, pp 583-590, issn 0148-7299Article

Metaphyseal dyschondroplasia with cone-shaped epiphysesHOEFFEL, J. C; DIDIER, F; CHANTEREAU, D et al.British journal of radiology. 1987, Vol 60, Num 715, pp 707-710, issn 0007-1285Article

METAPHYSEAL CHONDRODYSPLASIA.SPRANGER JW.1977; POSTGRAD. MED. J.; G.B.; DA. 1977; VOL. 53; NO 622; PP. 480-487; BIBL. 1 P.; (BONE DYSPLASIAS. SYMP. PROC.; BRISTOL; 1976)Conference Paper

Metaphyseal chondrodysplasia, Schmid type clinical and radiographic deliniation with a review of the literatureLACHMAN, R. S; RIMOIN, D. L; SPRANGER, J et al.Pediatric radiology. 1988, Vol 18, Num 2, pp 93-102, issn 0301-0449Article

The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the Newborn and adultCHARROW, J; POZNANSKI, A. K.American journal of medical genetics. 1984, Vol 18, Num 2, pp 321-327, issn 0148-7299Article

Genu valgum associated with short statureJOHNSTON, C. E. II.Orthopedics (Thorofare). 1987, Vol 10, Num 2, pp 370-376, issn 0147-7447Article

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDSMÄKLTIE, O; ELLIS, L; DURIE, P. R et al.Clinical genetics. 2004, Vol 65, Num 2, pp 101-112, issn 0009-9163, 12 p.Article

A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia-RosenbergLEE, Yung-Seng; ELLIOTT, Alison M; LOKE, Kah-Yin et al.American journal of medical genetics. 2003, Vol 119A, Num 1, pp 50-56, issn 0148-7299, 7 p.Article

Metaphyseal chondrodysplasia with cone-shaped epiphyses: A specific form involving the lower limbsDIEUX-COËSLIER, Anne; MOERMAN, Alexandre; HOLDER, Muriel et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 60-66, issn 0148-7299, 7 p.Article

Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal heightCAMERA, Andrea; CAMERA, Gianni.American journal of medical genetics. 2003, Vol 122A, Num 2, pp 159-163, issn 0148-7299, 5 p.Article

Hand involvement in schmid metaphyseal chondrodysplasiaELLIOTT, Alison M; FIELD, Fiona M; RIMOIN, David L et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 191-193, issn 0148-7299, 3 p.Article

PICTURE OF THE MONTH: DENOUEMENT AND DISCUSSION. METAPHYSEAL CHRONDRODYSPLASIA SCHMID TYPEGELLIS SS; FEINGOLD M; PAVONE L et al.1980; AMER. J. DIS. CHILD.; USA; DA. 1980; VOL. 134; NO 7; PP. 699-700; BIBL. 3 REF.Article

METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE. A DEFECT OF ULTRASTRUCTURAL METABOLISM: CASE REPORTWASYLENKO MJ; WEDGE JH; HOUSTON CS et al.1980; J. BONE JOINT SURG., AMER. ED.; USA; DA. 1980; VOL. 64; NO 2; PP. 660-663; BIBL. 20 REF.Article

METAPHYSEAL DYSPLASIA TYPE SCHMID: EARLY X-RAY DETECTION AND EVOLUTION WITH TIMEBELUFFI G; FIORI P; NOTARANGELO CD et al.1983; ANNALES DE RADIOLOGIE; ISSN 0003-4185; FRA; DA. 1983; VOL. 26; NO 2-3; PP. 237-243; ABS. FRE; BIBL. 21 REF.Conference Paper

FURTHER CLINICAL AND RADIOLOGICAL FEATURES IN METAPHYSEAL CHONDRODYSPLASIA JANSEN TYPENAZARA Z; HERNANDEZ A; CORONA RIVERA E et al.1981; RADIOLOGY; ISSN 0033-8419; USA; DA. 1981; VOL. 140; NO 3; PP. 697-700; BIBL. 12 REF.Article

FAMILIAL METAPHYSEAL DYSOSTOSIS. A CASE REPORT.WEKSELMAN R.1977; J. BONE JOINT SURG., AMER. ED.; U.S.A.; DA. 1977; VOL. 59; NO 5; PP. 690-691; BIBL. 4 REF.Article

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27NEUBAUER, B. A; STEFANOVA, I; GAL, A et al.Neurology. 2006, Vol 67, Num 4, pp 587-591, issn 0028-3878, 5 p.Article

Chondrodysplasie métaphysaire récessive autosomique et maladie de Hirschsprung = Cartilage-hair hypoplasia syndrome and Hirschsprung diseaseLE MERRER, M; BRIARD, M. L; CHAUVET, M. L et al.Annales de pédiatrie (Paris). 1991, Vol 38, Num 1, pp 27-30, issn 0066-2097Article

Cartilage-hair hypoplasia : clinical manifestations in 108 finnish patientsMÄKITIE, O; KAITILA, I.European journal of pediatrics. 1993, Vol 152, Num 3, pp 211-217, issn 0340-6199Conference Paper

Metaphyseal acroscyphodysplasiaVERLOES, A; LE MERRER, M; FARRIAUX, J.-F et al.Clinical genetics. 1991, Vol 39, Num 5, pp 362-369, issn 0009-9163Article

Jansen's metaphyseal chondrodysplasiaSOOD, A; SAMA, D; SHARMA, R et al.Indian pediatrics. 2000, Vol 37, Num 4, pp 435-440, issn 0019-6061Article

Unusual bone dysplasia featuring severe platyspondyly and vertebral «coronal cleft» in infancy, and changes of metaphyseal chondrodysplasia in childhoodCURRANINO, G.Pediatric radiology. 1986, Vol 16, Num 5, pp 433-436, issn 0301-0449Article

Metaphyseal dysostosis Schmidt typeAJAYKUMAR; RAVI KAPOOR; SETHI, G. R et al.Indian pediatrics. 1988, Vol 25, Num 12, pp 1211-1215, issn 0019-6061Article