A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome

Genetic Counseling

Volumn 10, Issue 4, 1999, Pages 337-343

  Stoll, Claude ^b   Terzic, J ^a   Fischbach, M ^a  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b HÔPITAL DE HAUTEPIERRE   (France)

Author keywords

Blepharo naso facial syndrome; Mental retardation; Pashayan syndrome; Telecanthus; Waardenburg syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL INHERITANCE; BABINSKI REFLEX; CHILD; CLINICAL ARTICLE; COORDINATION; DOMINANT INHERITANCE; FACE MALFORMATION; FEMALE; HUMAN; JOINT LAXITY; LIP MALFORMATION; MALE; MALFORMATION SYNDROME; MENTAL DEFICIENCY; NOSE MALFORMATION; PASHAYAN SYNDROME; SCHOOL CHILD; TELECANTHUS; TORSION DYSTONIA; WAARDENBURG SYNDROME; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; NOSE; PEDIGREE; SYNDROME; WAARDENBURG'S SYNDROME;

NASO; RAPHIA FRATER;

EID: 0033430247     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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