Oculo-ectodermal syndrome: A new tumour predisposition syndrome

Clinical Dysmorphology

Volumn 13, Issue 2, 2004, Pages 81-83

  Federici, Sonia ^a   Griffiths, Didier ^a   Siberchicot, François ^a   Chateil, Jean François ^a   Gilbert, Brigitte ^b   Lacombe, Didier ^a  

^a HÔPITAL PELLEGRIN   (France)

^b LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

Epibulbar dermoid; Giant cell granuloma; Oculo ectodermal syndrome; Tumour predisposition

Indexed keywords

ANAMNESIS; CANCER SUSCEPTIBILITY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; EYE MALFORMATION; GIANT CELL GRANULOMA; HUMAN; JAW CANCER; MALE; MALFORMATION SYNDROME; OCULO ECTODERMAL SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SKIN DEFECT; ALOPECIA; ARTICLE; ECHOGRAPHY; FEMALE; FOLLOW UP; GENETIC PREDISPOSITION; HYPERPIGMENTATION; JAW TUMOR; PATHOLOGY; SCALP; SYNDROME;

ALOPECIA; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GRANULOMA, GIANT CELL; HUMANS; HYPERPIGMENTATION; JAW NEOPLASMS; SCALP; SYNDROME;

EID: 7444247860     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200404000-00005     Document Type: Review

References (15)

1. Adams FH, Oliver CP (1945). Hereditary deformities in man due to arrested development. J Hered 36:3-7.
2. Al-Gazali Ll, Donnai D, Berry SA, Say B, Mueller RF (1988). The oculocerebrocutaneous (Delleman) syndrome. J Med Genet 25:773-778.
3. Deeken JH, Caplan RM (1970). Aplasia cutis congenita. Arch Dermatol 102:386-389.
4. Dubosson J-D, Schneider P (1978). Manifestation familiale d'une aplasie cutanée circonscrite du vertex (ACCV), associée dans un cas à une malformation cardiaque. J Genet Hum 26:351-365.
5. Evers MEJW, Dijkman-Neerincx RHM, Hamel BCJ (1994). Oculo-ectodermal syndrome:a new case. Am J Med Genet 53:378-379.
6. Finlay AY, Marks R (1978). An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples. Br J Dermatol 99:423-430.
7. Gardner J, Viljoen D (1994). Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome. Am J Med Genet 53:317-320.
8. Gedda L, Muratore A, Bernardi A (1963). La gangrena assetica della teca cranica come aplasia circoscritta ereditaria del neonato. Acta Genet Med Gemellol 12:117-133.
9. Gucuyener K, Tunaoglu FS, Demirsoy S, Atalay Y, Memioglu N (1992). Aplasia cutis congenita of the scalp without other defects in three siblings. Acta Paediatr 81:182.
10. James PA, McGaughran J (2002). A severe case of oculo-ectodermal syndrome. Clin Dysmorphol 11:179-182.
11. Johanson AJ, Blizzard RM (1971). A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr 79:982-987.
12. Lees M, Taylor D, Atherton D, Reardon W (2000). Oculo-ectodermal syndrome: report of two further cases. Am J Med Genet 91:391-395.
13. Silengo M, Lerone M, Seri M, Priolo M, Jarre L (2000). New clinical findings in oculo-ectodermal syndrome. Clin Dysmorphol 9:39-41.
14. Toriello HV, Lacassie Y, Droste P, Higgins JV (1993). Provisionary unique syndrome of ocular and ectodermal defects in two unrelated boys. Am J Med Genet 45:764-766.
15. Toriello HV, Bultman R, Panek RW, Hammers Y, Kohut G, Droste P, et al. (1999). Non-ossifying fibromas and giant cell reparative granulomas in child with ocular-ectodermal syndrome. Clin Dysmorphol 8:265-268.