Marshall-Smith syndrome and septo-optic dysplasia: An unreported association

American Journal of Medical Genetics, Part A

Volumn 146, Issue 16, 2008, Pages 2138-2140

  Travan, Laura ^a   Oretti, Chiara ^a   Zennaro, Floriana ^a   Demarini, Sergio ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Marshall Smith syndrome; Septo optic dysplasia

Indexed keywords

AMNIOCENTESIS; ANAMNESIS; APNEA; ARTICLE; BONE DEMINERALIZATION; CASE REPORT; CERVICAL SPINE; CERVICAL SPINE DISLOCATION; CHROMOSOME ANALYSIS; CRANIOFACIAL MALFORMATION; DEATH; DYSPHAGIA; EXOPHTHALMOS; FEMALE; FOOT MALFORMATION; FRONTAL BOSSING; GINGIVA HYPERPLASIA; HAND MALFORMATION; HUMAN; KARYOTYPE 46,XX; KYPHOSIS; LARYNGOSCOPY; MALFORMATION SYNDROME; MARSHALL SMITH SYNDROME; NASOGASTRIC TUBE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; RESPIRATORY DISTRESS; RESUSCITATION; SEPTOOPTIC DYSPLASIA; UPPER RESPIRATORY TRACT OBSTRUCTION;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; INFANT, NEWBORN; SEPTO-OPTIC DYSPLASIA; SYNDROME;

EID: 49449108221     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32430     Document Type: Article

References (17)

1. Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH. 2005. Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet Part A 137A:117-124.
2. Brodsky MC, Conte FA, Taylor D, Hoyt CG, Mrak RE. 1997. Sudden death in septo-optic dysplasia. Report of 5 cases. Arch Ophthalmol 115:66-70.
3. Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. 1998. Neonatal death in Marshall-Smith syndrome. Genet Couns 9:15-18.
4. Cullen A, Clarke TA, O'Dwyer TP. 1997. The Marshall-Smith syndrome: A review of the laryngeal complications. Eur J Pediatr 156:463-464.
5. Desphande C, Forrest M, Russel-Eggitt I, Hall CM, Metha R, Paterson J. 2006. Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. Clin Dysmorph 15:111-113.
6. Eich GF, Silver MM, Weksberg R, Daneman A, Costa T. 1991. Marshall-Smith syndrome: New radiographic, clinical and pathologic observations. Radiology 181:183-188.
7. Gasparetto EL, Warszawiak D, de Carvalho Neto A, Benites Filho PR, Bruck I, Antoniuk S. 2003. Septo-optic dysplasia plus: Case report. Arq Neuropsiquiatr 61:671-676.
8. Greulich WW, Pyle SI. 1959. Radiographic Atlas of Skeletal Development of the Hand and Wrist. 2nd edition. Stanford, CA: Stanford University Press.
9. Kelberman D, Dattani MT. 2008. Septo-optic dysplasia - Novel insights into the aetiology. Horm Res 69:257-265.
10. Marshall RE, Graham CB, Scott CR, Smith DW. 1971. Syndrome of accelerated skeletal maturation and relative failure to thrive: A newly recognised clinical growth disorder. J Pediatr 78:95-101.
11. Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM. 2000. Septo-optic dysplasia plus: Spectrum of malformations of cortical development. Neurology 54:1701-1703.
12. Pappas CTE, Rekate HL. 1991. Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. J Neurosurg 75:95-101.
13. Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G. 1993. Long survival of patient with Marshall-Smith syndrome without respiratory complications. J Med Genet 30:877-879.
14. Stevens CA, Dobyns WB. 2004. Septo-optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis. Am J Med Genet Part A 125A:12-16.
15. Summers DA, Cooper HA, Butler MG. 1999. Marshall-Smith syndrome: Case report of a newborn male and review of the literature. Clin Dysmorph 8:207-210.
16. Wang TJ. 2002. Marshall-Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. Am J Med Genet 112:107-108.
17. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR. 1997. Marshall-Smith syndrome: The expanding phenotype. J Med Genet 34:842-845.