Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes: a new congenital malformation syndromeJEQUIER, S; KOZLOWSKI, K.Pediatric radiology. 1987, Vol 17, Num 5, pp 405-408, issn 0301-0449Article

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremitiesMEGARBANE, André; RASSI, Simon; CHOUERY, Eliane et al.American journal of medical genetics. 2003, Vol 120A, Num 2, pp 276-282, issn 0148-7299, 7 p.Article

Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome?RAJAB, A; KHABURI, M; SPRANGER, S et al.American journal of medical genetics. 2003, Vol 121A, Num 3, pp 271-276, issn 0148-7299, 6 p.Article

Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndromeGOODSHIP, J. A; O'SULLIVAN, J; CHINNERY, P. F et al.Journal of medical genetics. 2002, Vol 39, Num 3, pp 221-223, issn 0022-2593Article

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-Oto-Cardio-Skeletal (BOCS) syndrome?BASEL-VANAGAITE, Lina; SHOHAT, Mordechai; UDLER, Yevgenia et al.American journal of medical genetics. 2002, Vol 113, Num 1, pp 78-81, issn 0148-7299, 4 p.Article

Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes : New syndrome or Fraser syndrome?KANTAPUTRA, Piranit N; EIUMTRAKUL, Pakanart; MATIN, Tada et al.American journal of medical genetics. 2001, Vol 98, Num 3, pp 263-268, issn 0148-7299Article

Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous coupleDELOZIER-BLANCHET, C. D; LESPINASSE, J; BRUNDLER, M. A et al.Journal of medical genetics. 2001, Vol 38, Num 4, pp 269-271, issn 0022-2593Article

Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontiaRAMOS-ARROYO, Maria A; VALIENTE, Alberto; RODRIGUEZ-TORAL, Elias et al.American journal of medical genetics. 2000, Vol 95, Num 3, pp 237-240, issn 0148-7299Article

Japanese family with an autosomal dominant chromosome instability syndrome : A new neurodegenerative disease?ISHIKAWA, Shozo; ISHIKAWA, Masayo; SHIGETA, Hiroaki et al.American journal of medical genetics. 2000, Vol 94, Num 4, pp 265-270, issn 0148-7299Article

Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sistersHENDRIKS, Y. M. C; LAAN, L. A. E. M; VIELVOYE, G. J et al.American journal of medical genetics. 1999, Vol 86, Num 2, pp 183-186, issn 0148-7299Article

Limb mammary syndrome : A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27VAN BOKHOVEN, H; JUNG, M; WIENKER, T. F et al.American journal of human genetics. 1999, Vol 64, Num 2, pp 538-546, issn 0002-9297Article

Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation : Report of two sibs with a unique syndromeNOWACZYK, M. J. M; SUTCLIFFE, T. L.American journal of medical genetics. 1999, Vol 87, Num 1, pp 78-81, issn 0148-7299Article

Vertebral and eye anomalies, cutis aplasia, and short stature (VECS) : A new syndrome?PRASAD, C; CONNOLLY-WILSON, M; ROSALES, T. O et al.American journal of medical genetics. 1998, Vol 77, Num 3, pp 225-227, issn 0148-7299Article

Dyssegmental dysplasia with glaucomaMAROTEAUX, P; MANOUVRIER, S; BONAVENTURE, J et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 46-49, issn 0148-7299Article

Skeletal and cardiac malformations with thrombocytopenia : A new syndrome ?RUPPS, R; ELLIOTT, A. M; AZOUZ, E. M et al.American journal of medical genetics. 1996, Vol 64, Num 3, pp 497-500, issn 0148-7299Article

Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patientsLOWRY, R. B; WESENBERG, R. L; HALL, J. G et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 55-61, issn 0148-7299Article

New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delayBAGATELLE, R; CASSIDY, S. B.American journal of medical genetics. 1995, Vol 55, Num 3, pp 367-371, issn 0148-7299Article

Polydactyly, campomelia, ambiguous, genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents : a new multiple malformation syndrome, or a severe form of oral-facial digital syndrome type IV ?ADES, L. C; CLAPTON, W. K; MORPHETT, A et al.American journal of medical genetics. 1994, Vol 49, Num 2, pp 211-217, issn 0148-7299Article

Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomaliesURIOSTE, M; RODRIGUEZ, J. I; BARCIA, J. M et al.American journal of medical genetics. 1993, Vol 47, Num 4, pp 494-503, issn 0148-7299Article

A new syndrome with distinct facial and auricular malformations and dominant inheritanceSIMOSA L., V; PENCHASZADEH, V. B; BUSTOS, T et al.American journal of medical genetics. 1989, Vol 32, Num 2, pp 184-186, issn 0148-7299Article

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndromeBARAITSER, M; WINTER, R. M.Journal of medical genetics. 1988, Vol 25, Num 1, pp 41-43, issn 0022-2593Article

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndromeLE MERRER, M; BRIARD, M. L; GIRARD, S et al.Journal of medical genetics. 1988, Vol 25, Num 2, pp 88-95, issn 0022-2593Article

Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palateMARTINEZ R., B; MONASTERIO A., L; PINHEIRO, M et al.American journal of medical genetics. 1987, Vol 27, Num 1, pp 23-31, issn 0148-7299Article

A new chromosome instability disorderMARASCHIO, P; PERETTI, D; LAMBIASE, S et al.Clinical genetics. 1986, Vol 30, Num 5, pp 353-365, issn 0009-9163Article

Scalp defects, polythelia, microcephaly, and developmental delay: A new syndrome with apparent autosomal dominant inheritanceMARBLE, Michael; PRIDJIAN, Gabriella.American journal of medical genetics. 2002, Vol 108, Num 4, pp 327-332, issn 0148-7299Article