A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

American Journal of Medical Genetics, Part A

Volumn 146, Issue 7, 2008, Pages 813-819

  Al Gazali, L ^a   Hertecant, J ^b   Algawi, K ^b   El Teraifi, H ^b   Dattani, M ^c  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b Tawam Johns Hopkins Hospital   (United Arab Emirates)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Brain malformation; Consanguinity; Ocular colodomas; UAE

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN MALFORMATION; CHROMOSOME ANALYSIS; COLOBOMA; CONGENITAL HEART MALFORMATION; CONSANGUINITY; DEVELOPMENTAL DISORDER; ENDOCRINE DISEASE; FAMILY STUDY; HAIR DISEASE; HEARING IMPAIRMENT; HUMAN; HYPERTRICHOSIS; ICHTHYOSIS; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODONTIA; OPTIC NERVE DISEASE; PALMOPLANTAR KERATODERMA; PEDIGREE; PRIORITY JOURNAL; SEIZURE; SEPTOOPTIC DYSPLASIA; UNITED ARAB EMIRATES;

ABNORMALITIES, MULTIPLE; BRAIN; COLOBOMA; CONSANGUINITY; ENDOCRINE GLANDS; FEMALE; GENES, RECESSIVE; HUMANS; ICHTHYOSIS; INFANT; MALE; PEDIGREE; SYNDROME; UNITED ARAB EMIRATES;

EID: 41849109879     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32114     Document Type: Article

References (21)

1. Benner JD, Preslan MW, Gratz E, Josly J, Schwartz M, Kelman S. 1990. Septo-optic dysplasia in two siblings. Am J Opthal 109:632-637.
2. Blethen SL, Weldon W. 1985. Hypopituitarism and sepo-optic dysplasia in first cousins. Am J Med Genet 21:123-129.
3. Dattani MT, Maetines-Barbera J, Thomas PQ, Brickman JM, Gupta R, Martenesson I, Toresson H, Fox M, Wales JKH, Hindmarsh PC, Krauss S, Beddington RS, Robinson ICAF. 1998. Mutations in the homeobox gene HESX1/Hesx1 associated with septooptic dysplasia in human and mouse. Nat Genet 19:125-133.
4. Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JR Jr, Maria BL, Barkovich AJ, Dobyns WB. 2004. Molar tooth sign of the midbrain-hindbrain junction: Occurrencec in multiple distinct syndromes. Am J Med Genet Part A 125A:125-134.
5. McNay DEG, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Hauf N, Krude H, Shalet SM, Dattani MT. 2007. HESX1 mutations are an uncommon cause of septo-optic dysplasia and hypopituitarism. J Clin Endocrinol Metab 92:691-697.
6. Dattani MT, Robinson IC. 2000. The molecular basis for development al disorders of the pituitary gland in man. Clin Genet 57:337-346.
7. Morishima A, Aranoff G. 1986. Syndrome of septo-optic dysplasia: The clinical spectrum. Brain Dev 8:233-239.
8. Ritscher D, Shinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. 1987. Dandy-Walker (like) malformation, atrio-ventricular septal defect and similar pattern of minor anomalies in 2 sisters: A new syndrome? Am J Med Genet 26:481-491.
9. Schnur RE, Greenbaum BH, Heymann WR, Christensen K, Buck AS, Reid CS. 1997. Acute lymphoblastic leukemia in a child with CHIME neuroectodermal dysplasia syndrome. Am J Med Genet 72:24-29.
10. Shashi V, Zunich J, Thaddeus EK, Fryburg JS. 1995. Neuroectodermal (CHIME) syndrome: An additional case with long term follow up of the reported cases. J Med Genet 32:465-469.
11. Skarf B, Hoyt CS. 1984. Optic nerve hypoplasia in children: Association with anomalies of the endocrine and CNS. Arch Ophthalmol 102:62-67.
12. Stanhope R, Preece MA, Brook CGD. 1984. Hypoplastic optic nerves and pituitary dysfunction: A spectrum of anatomical and endocrine abnormalities. Arch Dis Child 59:111-114.
13. Thomas PQ, Dattani MT, Brickman JM, Mcnay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson ICAF, Beddington RSP. 2001. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 10:39-45.
14. Tinschert S, Anton-lamprecht I, Albrecht-Nebe H, Audring H, Zunich M. 1996. Neuroectodermal syndrome: Migrratory icthyosiform dermatosis, cxolobomas, and other abnormalities. Pediatr Dermatol 13:663-371.
15. Wales JK, Quarrell OWJ. 1996. Evidence for possible Mendelian inheritance of septo-optic dysplasia. Acta Paediatr 85:391-392.
16. Wheeler PG, Sageghi-Nejad Ab, Elias ER. 1999. The 3C syndrome: Evolution of the phenotype and growth hormone deficiency. Am J Med Genet 87:61-64.
17. Worle H, Lewin MA, Holder M, Bastanier CK, Kohler B. 1994. Another case of Ritscher-Schinzel syndrome: Cranio-cerebello-cardiac dysplasia (3C syndrome) with associated bilateral colobomas. Eur J Pediatr 153:140.
18. Zunich J, Kaye CI. 1983. New syndrome of congenital ichthyosis with neurologic abnormalities. Am J Med Genet 15:331-333.
19. Zunich J, Kaye CI. 1984. Letter to the editor: Additional case report of new neuroectodermal syndrome. Am J Med Genet 17:707-710.
20. Zunich J, Burton E, Holbrook K, Kaye CI. 1985. Congenital migratory icthyosiform dermatosis with neurologic and ophthalmologic abnormalities. Arch Dermatol 121:1149-1156.
21. Zunich J, Easterly NB, Kaye CI. 1988. Autosomal recessive transmission of neuroectodermal syndrome. Arch Dermatol 124:1188-1189.