Van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers

American Journal of Medical Genetics

Volumn 118 A, Issue 3, 2003, Pages 267-273

  Schweitzer, Daniela N ^a,c   Lachman, Ralph S ^a   Pressman, Barry D ^b   Graham Jr , John M ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c California Hospital Medical Center   (United States)

Author keywords

Arachnodactyly; Blepharophimosis; Cerebellar hyperplasia; Congenital contractures; Marden Walker like syndrome; Van den Ende Gupta syndrome

Indexed keywords

ARACHNODACTYLY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEPHAROPHIMOSIS; BRAIN MALFORMATION; CASE REPORT; CEREBELLAR HYPERPLASIA; CLINICAL FEATURE; CONSANGUINITY; DANDY WALKER SYNDROME; FACE DYSMORPHIA; FAILURE TO THRIVE; FOOT MALFORMATION; HAND MALFORMATION; HUMAN; HYPERPLASIA; HYPERTELORISM; HYPOPLASIA; INFANT; JOINT CONTRACTURE; JOINT LIMITATION; LOWER LIP; MALE; MARDEN WALKER SYNDROME; MAXILLA HYPOPLASIA; MENTAL DEFICIENCY; MICROCEPHALY; NOSE MALFORMATION; PRIORITY JOURNAL; SKELETON MALFORMATION; SYNDROME; VAN DEN ENDE GUPTA SYNDROME;

GENETTA;

EID: 0042321164     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10143     Document Type: Article

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