Abstract
Oculocerebrocutaneous syndrome (OCCS) is a rare disease (OMIM # 164180) with only around 35 patients reported so far (Hunter 2008, Tambe et al. 2003) characterized by bilateral anophthalmia and orbital cysts, typical skin lesions consisting in skin appendages, focal dermal hypoplasia/aplasia and punch-like defects, complex brain malformations (mostly of the Dandy-Walker type) associated to mental retardation and seizures, and cleft lip/palate. (1987) suggested the disorder is due to an autosomal dominant lethal somatic mutation that survives by mosaicism.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
References
Al-Gazali LI, Donnai D, Berry SA, Say B, Mueller RF (1988) The oculocerebrocutaneous (Delleman) syndrome. J Med Genet 25: 773–778.
Angle B, Hersh JH (1997) Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome. Am J Med Genet 68: 39–42.
Braun-Vallon S, Joseph R, Hezelof C, Ribierre M, Lagraulet J (1958) Un cas de teratoma de l’orbite. Bull Mem Soc Fr Ophthalmol 808–809.
Delleman JW, Oorthuys JWE (1981) Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity? Clin Genet 19: 191–198.
Dollfus MA, Marx P, Langlois J, Clement JC, Farthomm J (1968) Congenital cyst eyeball. Am J Ophthalmol 66: 504–509.
Gorlin RJ, Cohen MM, Hennekam RCM (2001) Oculocerebrocutaneous syndrome (Dellemn syndrome). In: Gorlin RJ, Cohen MM, Hennekam RCM (eds.) Syndromes of the Head and Neck. New York: Oxford University Press, pp. 1206–1207.
Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16: 899–906.
Hennekam RC (1994) Scalp lipomas and cerebral malformations: overlap between encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. Clin Dysmorphol 3: 87–89.
Hoo JJ, Kapp-Simon K, Rollnick B, Chao M (1991) Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am J Med Genet 40: 290–293.
Hunter A (2008) Oculocerebrocutaneous syndrome: an update. Am J Med Genet A 146: 674.
Hunter AG (2006) Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? Am J Med Genet A 140: 709–726.
Landenheim J, Metrick S (1956) Congenital microphthalmos with cyst formation. Am J Ophthalmol 41: 1059–1062.
Leichtman LG, Wood B, Rohn R (1994) Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a middle developmental field defect. Am J Med Genet 50: 39–41.
Loggers HE, Oosterwijk JC, Overweg-Plansoen WCG, van Wilsem A, Bleeker-Wagemakers EM, Bijlsma JB (1992) Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. A differential diagnostic problem. Ophthalm Paediatr Genet 13: 171–177.
McCandless SE, Robin NH (1998) Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly. Am J Med Genet 78: 282–288.
Moog U, Krüger G, Stengel B, de Die-Smulders C, Dykstra S, Bleeker-Wage-makers E (1996) Oculocerebrocutaneous syndrome: a case report, a follow-up and differential diagnostic considerations. Genet Couns 7: 257–265.
Moog U, de Die-Smulders C, Systermans JMJ, Cobben JM (1997) Oculocerebrocutaneous syndrome: report of three additional cases and etiological considerations. Clin Genet 52: 219–225.
Moog U, Jones MC, Bird LM, Dobyns WB (2005) Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet 42: 913–921.
Pascual-Castroviejo I, Pascual-Pascual SJ, Velázquez-Fragua R, Lapunzina P (2005) Oculocerebrocutaneous (Delleman) syndrome: Report of two cases. Neuropediatrics 36: 50–54.
Tambe KA, Ambekar SV, Balna PN (2003) Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case. Eur J Pediatr Neurol 7: 77–80.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer-Verlag/Wien
About this chapter
Cite this chapter
Pascual-Castroviejo, I. (2008). Oculocerebrocutaneous Syndrome (Delleman Syndrome). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_61
Download citation
DOI: https://doi.org/10.1007/978-3-211-69500-5_61
Publisher Name: Springer, Vienna
Print ISBN: 978-3-211-21396-4
Online ISBN: 978-3-211-69500-5
eBook Packages: MedicineMedicine (R0)