Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype

Clinical Genetics

Volumn 50, Issue 3, 1996, Pages 145-148

  Özkinay, F Ferda ^a   Akisü, Mete ^a   Kültürsay, Nilgün ^a   Oral, Resmiye ^a   Tansug, Nermin ^a   Sapmaz, Gül ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Abnormalities, multiple; Bone and bones: abnormalities; Brain: abnormalities; Hydronephrosis, congenital; Infant: newborn; Syndrome

Indexed keywords

ACROCALLOSAL SYNDROME; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CORPUS CALLOSUM; HUMAN; HYDRONEPHROSIS; HYDROURETER; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; LARYNX STENOSIS; MALE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION;

EID: 0029910785     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02369.x     Document Type: Article

References (11)

1. Al-Gazali LI, Farndon P, Burn J, Flannery DB. The Schinzel-Giedion syndrome. J Med Genet 1990: 27: 42-47.
2. Donnai D, Harris R. A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. J Med Genet 1979: 16: 483.
3. Herman TE, Sweetser DA, McAlister WH, Dowton SB. Schinzel-Giedion syndrome and congenital megacalyces. Pediatr Radiol 1993: 23: 111-112.
4. Kelley R, Zackai EH, Charney EB. Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr 1982: 100: 943-946.
5. Lawson TL, Foley WD, Berland MD, Clark KE. Ultrasonic evaluation of fetal kidneys. Radiology 1981: 138: 153-156.
6. Labrune P, Lyonnet S, Zupan V, Imbert MC. Three new cases of the Schinzel-Giedion syndrome and review of the literature. Am J Med Genet 1994: 50: 90-93.
7. Maclennan AC, Doyle D, Simpson RM. Neurosonography and pathology in the Schinzel-Giedion syndrome. J Med Genet 1991: 28: 547-549.
8. Pul M, Nuran Y, Komsuoglu B. The Schinzel-Giedion syndrome. Clin Pediatr 1990: 29: 235-239.
9. Robin NH, Grace K, DeSouza TG, McDonald D. New finding of Schinzel Giedion syndrome: acase with a malignant sacrococcygeal teratoma. Am J Med Genet 1993: 47: 852-856.
10. Schinzel A, Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1978: 1: 361.
11. Verloes A, Moes D, Palumbo L, Elmer C. Schinzel-Giedion syndrome. Eur J Pediatr 1993: 152: 421-423.