Chondrodysplasie ponctuée de type Conradi-Hünermann et alcoolisme fœtal = Conradi Hünermann type chondrodysplasia punctata and fetal alcoholismSARDA, P; GUILLAUMONT, S; JALAGUIER, J et al.Journal de génétique humaine. 1989, Vol 37, Num 4-5, pp 395-399, issn 0021-7743, 5 p.Article

Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patientsPOULOS, A; SHEFFIELD, L; SHARP, P et al.The Journal of pediatrics. 1988, Vol 113, Num 4, pp 685-690, issn 0022-3476Article

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

Chondrodysplasia punctata. Report of two casesANDERSEN, R. E. JR; JUTESEN, P.Skeletal radiology. 1987, Vol 16, Num 3, pp 223-226, issn 0364-2348Article

Chrondrodysplasia punctata (conradi disease)O'BRIEN, J. T.International journal of dermatology. 1990, Vol 29, Num 7, pp 472-476, issn 0011-9059, 5 p.Article

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

La maladie des épiphyses ponctuées (à propos de 2 cas personnels) = The punctuate epiphysis disease (two cases)GARCIA, P; PALIX, C; COIGNET, J et al.Le Pédiatre. 1985, Vol 21, Num 93, pp 287-295, issn 0397-9180Article

Chondrodysplasia punctata in an adult recognized as vitamin K antagonist embryopathyHOSENFELD, D; WIEDEMANN, H.-R.Clinical genetics. 1989, Vol 35, Num 5, pp 376-381, issn 0009-9163, 6 p.Article

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

Peroxisomal abnormalities in rhizomelic chondrodysplasia punctataHEYMANS, H. S. A; OORTHUYS, J. W. E; NELCK, G et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 329-331, issn 0141-8955, suppl. 2Conference Paper

Rhizomelic chondrodysplasia punctata : deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzymeHEIKOOP, J. C; VAN ROERMUND, C. W. T; JUST, W. W et al.The Journal of clinical investigation. 1990, Vol 86, Num 1, pp 126-130, issn 0021-9738Article

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

Acro-spondylar variant of punctate epiphyseal dysplasia: report of two casesKOZLOWSKI, K; MAJEWSKI, F.RöFo. Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin. 1990, Vol 152, Num 1, pp 115-117, issn 0340-1618, 3 p.Article

Condrodisplasia punctata tipo Conradi-Hünerman. Presentación de un caso = Conradi Hünerman chondrodysplasia. Report of one caseHERRERA-NAVARRO, M.Dermatología. 1990, Vol 34, Num 4, pp 291-293, issn 0185-4038, 3 p.Article

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

Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasiaCASTRIOTA-SCANDERBEG, A; DALLAPICCOLA, B; MINGARELLI, R et al.American journal of medical genetics. 2001, Vol 99, Num 4, pp 289-293, issn 0148-7299Article

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

X-chromosoma dominante Chondrodysplasia punctata (Happle) bei einem KnabenTRONNIER, M; FROSTER-ISKENIUS, U. G; SCHMELLER, W et al.Hautarzt. 1992, Vol 43, Num 4, pp 221-225, issn 0017-8470Article

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

La chondrodysplasie ponctuée: à propos de quatre observations en deux fratries = Chondrodysplasia ponctataPARENT, P; LE GONIDEC, A; LE GUERN, H et al.Journal de génétique humaine. 1988, Vol 36, Num 5, pp 475-484, issn 0021-7743Article

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

A new type of chondrodysplasia punctata associated with peroxisomal dysfunctionPOLL-THE, B. T; MAROTEAUX, P; NARCY, C et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 3, pp 361-363, issn 0141-8955Article

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

Chondrodysplasia punctata : a case reportMULPRUEK, P; MULPRUEK, T; PHATRAKOM, C et al.Chot Mai Het Thang Phaet. 1992, Vol 75, pp 119-124, issn 0125-2208, SUP1Article