Vici syndrome associated with unilateral lung hypoplasia and myopathy

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1849-1853

  Al Owain, Mohammed ^a   Al Hashem, Amal ^a   Al Muhaizea, Mohammed ^a   Humaidan, Hani ^a   Al Hindi, Hindi ^a   Al Homoud, Iftetah ^a   Al Mogarri, Ibrahim ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; DISEASE ASSOCIATION; HUMAN; KARYOTYPE; LETTER; LUNG HYPOPLASIA; MALE; MALFORMATION SYNDROME; MYOPATHY; PRIORITY JOURNAL; SCHOOL CHILD; VICI SYNDROME; ABNORMALITIES, MULTIPLE; ADULT; COMPLICATION; COMPUTER ASSISTED TOMOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; FEMALE; INFANT; LUNG; MUSCLE; MUSCLE DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PREGNANCY; RADIOGRAPHY; SYNDROME; ULTRASTRUCTURE;

ABNORMALITIES, MULTIPLE; ADULT; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LUNG; MAGNETIC RESONANCE IMAGING; MALE; MUSCLES; MUSCULAR DISEASES; PREGNANCY; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 77954123367     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33421     Document Type: Letter

References (15)

1. Abrams ME, Ackerman VL, Engle WA. 2004. Primary unilateral pulmonary hypoplasia: Neonate through early childhood - Case report, radiographic diagnosis and review of the literature. J Perinatol 24:667-670.
2. Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasubuchi Y. 2002. Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet 109:61-66.
3. del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J. 1999. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet 85:479-485.
4. Hall JG. 1986. Analysis of Pena Shokeir phenotype. Am J Med Genet 25:99-117.
5. Hastings R, Harding D, Donaldson A, Liebling R, Hayes A, Kraus A, Joss S, Narayanaswamy S, Turnpenny P, Smithson S. 2009. Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib - Is there a distinct recessive syndrome? Am J Med Genet Part A 149:2838-2842.
6. Husain AN, Hessel RG. 1993. Neonatal pulmonary hypoplasia: An autopsy study of 25 cases. Pediatr Pathol 13:475-484. (Pubitemid 23216225)
7. Knox WF, Barson AJ. 1986. Pulmonary hypoplasia in a regional perinatal unit. Early Hum Dev 14:33-42.
8. Macayran JF, Doroshow RW, Phillips J, Sinow RM, Furst BA, Smith LM, Lin HJ. 2002. PAGOD syndrome: Eighth case and comparison to animal models of congenital vitamin A deficiency.Am J Med Genet 108:229-234.
9. McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H.. 2010. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am J Med Genet Part A 152A:741-747.
10. Miyata R, Hayashi M, Sato H, Sugawara Y, Yui T, Araki S, Hasegawa T, Doi S, Kohyama J. 2007. Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis. Am J Med Genet Part A 143:189-194.
11. Moessinger AC, Santiago A, Paneth NS, Rey HR, Blanc WA, Driscoll JM Jr. 1989. Time-trends in necropsy prevalence and birth prevalence of lung hypoplasia. Paediatr Perinat Epidemiol 3:421-431. (Pubitemid 19267612)
12. Nakamura Y, Harada K, Yamamoto I, Uemura Y, Okamoto K, Fukuda S, Hashimoto T. 1992. Human pulmonary hypoplasia. Statistical, morphological, morphometric, and biochemical study. Arch Pathol Lab Med 116:635-642.
13. Porter HJ. 1999. Pulmonary hypoplasia. Arch Dis Child Fetal Neonatal Ed 81:F81-F83.
14. Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Levy N, Carreira IM, Couceiro AB, Saraiva JM. 2008. Tetra-amelia and lung hypo/aplasia syndrome: Newcase report and review. Am J Med Genet Part A 146:2799-2803.
15. Vici CD, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M. 1988. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet 29:1-8.