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New syndromeROBINOW, M; BEEMER, F. A.American journal of medical genetics. 1990, Vol 36, Num 3, issn 0148-7299, p.375Article

FAMILIAL DISEASE CHARACTERIZED BY NEONATAL JAUNDICE, AND PROBABLE HEPATOSTEATOSIS AND KERNICTERUS: A NEW SYNDROME. = MALADIE FAMILIALE CARACTERISEE PAR UN ICTERE NEONATAL AVEC PROBABLEMENT HEPATOSTEATOSE ET ICTERE NUCLEAIRE: UN NOUVEAU SYNDROME.WADLINGTON WB; RILEY HD JR.1973; PEDIATRICS; U.S.A.; DA. 1973; VOL. 51; NO 2 PART 1; PP. 192-198; BIBL. 23 REF.Serial Issue

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

A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardationCANTALAMESSA, L; BALDINI, M; AMBROSI, B et al.American journal of medical genetics. 1989, Vol 33, Num 1, pp 117-120, issn 0148-7299Article

Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebral calcifications, retinal ischemic syndrome, and phenotypic abnormalities: a new familial syndromeRAMBAUD, J.-C; GALIAN, A; ZITTOUN, R et al.Gastroenterology (New York, NY. 1943). 1986, Vol 90, Num 4, pp 930-938, issn 0016-5085Article

Recurrences and bilaterality in the multiple evanescent white-dot syndromeAABERG, T. M; CAMPO, R. V; JOFFE, L et al.American journal of ophthalmology. 1985, Vol 100, pp 29-37, issn 0002-9394Article

New syndromes : updates to the Birth Defects EncyclopediaTORIELLO, H. V.Dysmorphology and clinical genetics. 1992, Vol 6, Num 1, pp 39-43, issn 0893-6633Conference Paper

RETICULOSE FAMILIALE HEPATO-SPLENO-GANGLIONNAIRE D'EVOLUTION CHRONIQUE. ETUDE CLINIQUE ET BIOLOGIQUEVERGER P; CHANNAROND J; BENTEGEAT J et al.1973; SEM. HOP., ANN. PEDIATR.; FR.; DA. 1973; VOL. 49; NO 4; PP. 305-316; ABS. ANGL. ESP. ALLEM.; BIBL. 11REF.Serial Issue