Van Den Ende-Gupta syndrome: Laryngeal abnormalities in two siblings

American Journal of Medical Genetics, Part A

Volumn 143, Issue 22, 2007, Pages 2706-2711

  Carr, Christopher W ^a   Carron, Jeffrey D ^b   Lachman, Ralph S ^c   Abdul Rahman, Omar A ^a  

^a UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^b UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Arachnodactyly; Beals syndrome; Blepharophimosis; Contractures; Fibrillin; Laryngeal anomalies; Marden Walker syndrome; Marfan syndrome; Van den Ende Gupta syndrome

Indexed keywords

AFRICAN AMERICAN; ARACHNODACTYLY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLEPHAROPHIMOSIS; BONE DISEASE; BRAZIL; CASE REPORT; CONGENITAL MALFORMATION; CONTRACTURE; EPIGLOTTIS; FACE DYSMORPHIA; FEMALE; HUMAN; INFANT; LARYNGOMALACIA; LARYNGOSCOPY; LARYNX DISORDER; LARYNX SURGERY; OUTCOME ASSESSMENT; PALATE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; SIBLING; STRIDOR; SUPRAGLOTTOPLASTY; SURGICAL TECHNIQUE; TREATMENT OUTCOME; VAN DEN ENDE GUPTA SYNDROME;

ABNORMALITIES, MULTIPLE; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; LARYNGOSCOPY; LARYNX; MUSCULOSKELETAL ABNORMALITIES; SIBLINGS; SYNDROME;

EID: 35948969853     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32007     Document Type: Article

References (6)

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. 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.
3. Gupta A, Hall CM, Ransley YF, Murday VA. 1995. A new autosomal recessive syndrome of characteristic facie, joint contractures, skeletal abnormalities, and normal development: Second report with further clinical delineation. J Med Genet 32:809-812.
4. 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.
5. 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.
6. 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.