Further delineation of the Van den Ende-Gupta syndrome

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3095-3100

  Ali, Rehab ^a   Almureikhi, Mariam ^a   Al Musaifri, Fatima ^a   Bhat, Venkatraman ^b   Teebi, Ahmad ^a,c,d   Ben Omran, Tawfeg ^a,c,d  

^a HAMAD MEDICAL CORPORATION   (Qatar)

^b Mazumdar Shaw Cancer Center   (India)

^c WEILL CORNELL MEDICAL COLLEGE   (Qatar)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Arachnodactyly; Autosomal recessive; Blepharophimosis; Camptodactyly; Everted lower lip; Malar hypoplasia; Qatar; Van den Ende Gupta syndrome

Indexed keywords

ARACHNODACTYLY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH WEIGHT; BLEPHAROPHIMOSIS; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEVELOPMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; FAMILY HISTORY; FEMALE; HEREDITY; HUMAN; HYPOPLASIA; KIDNEY MALFORMATION; LIP MALFORMATION; MALE; MICROPHTHALMIA; MORPHOLOGY; NOSE MALFORMATION; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; QATAR; VAN DEN ENDE GUPTA SYNDROME; ZYGOMATIC BONE HYPOPLASIA;

ABNORMALITIES, MULTIPLE; ARACHNODACTYLY; BLEPHAROPHIMOSIS; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; DNA; FAMILY; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HAND DEFORMITIES, CONGENITAL; HUMANS; LIP; MALE; MICROARRAY ANALYSIS; PHENOTYPE; QATAR; SYNDROME;

EID: 78649685699     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33725     Document Type: Article

References (10)

1. Bistritzer T, Fried K, Lahat E, Dvir M, Goldberg M. 1993. Congenital contractural arachnodactyly in two double second cousins: Possible homozygosity. Clin Genet 44: 15-19.
2. Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA. 2007. Van Den Ende-Gupta syndrome: Laryngeal abnormalities in two siblings. Am J Med Genet Part A 143A: 2706-2711.
3. Froster UG, Rehder H, Hohn W, Oberheuser F. 1993. Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): Clinical and autopsy findings. Am J Med Genet 47: 717-722.
4. Guerra D, Sanchez O, Richieri-Costa A. 2005. Van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. Am J Med Genet Part A 136A: 377-380.
5. 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.
6. Leal GF, Silva EO. 2009. Van den Ende-Gupta syndrome: Evidence for genetic heterogeneity. Am J Med Genet Part A 149A: 1293-1295.
7. Phadke SR, Gulati R, Agarwal SS. 1998. Further delineation of a new (van den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face. Am J Med Genet 77: 16-18.
8. Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. 2003. Van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers. Am J Med Genet Part A 118A: 267-273.
9. Teebi AS, Shaltout AA. 1989. Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage. Am J Med Genet 33: 58-60.
10. 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.