Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face

American Journal of Medical Genetics

Volumn 77, Issue 1, 1998, Pages 16-18

  Phadke, Shubha R ^a   Gulati, Reena ^a   Agarwal, S S ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Arachnodactyly; Blepharophimosis; Camptodactyly

Indexed keywords

ARACHNODACTYLY; ARTICLE; CASE REPORT; CHILD; CONTRACTURE; EAR MALFORMATION; FACE MALFORMATION; FEMALE; HUMAN; LIP; NOSE MALFORMATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT;

BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; CONTRACTURE; EAR; ELBOW; FACE; FEMALE; FINGERS; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MARFAN SYNDROME; SYNDROME;

GENETTA;

EID: 0032574655     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19980428)77:1<16::aid-ajmg4>3.0.co;2-j     Document Type: Article

References (2)

1. Gupta A, Hall CM, Ransley YF, Murday VA (1995): A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities and normal development: Second report with further clinical delineation. J Med Genet 32:809-812.
2. Van Den Ende JJ, Van Bever Y, Rodini ESO, Richieri-Costa A (1992): Marden-Walker like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents. Am J Med Genet 42:467-469.