A differential diagnostic problem ?

References

• Haberland C, Perou M. Encephalocraniocutaneous lipomatosis, a new example of ectomesodermal dysgenesis. Arch Neurol 1970; 22: 144–155
   PubMedGoogle Scholar
• Fishman MA, Chang C SC, Miller JE. Encephalocraniocutaneous lipomatosis. Pediatrics 1978; 61: 580–582
   Google Scholar
• Walbaum R. Encephalo-oculo-cutaneous dysplasia. Clin Genet 1984; 26: 493–494
   Google Scholar
• Bamforth JS, Riccardi VM, Thisen P, Chitayat D, Friedman JM, Caruthers J, Hall JG. Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature. Neurofibromatosis 1989; 2: 166–173
   Google Scholar
• Sanchez NP, Rhodes AR, Mandell F, et al. Encephalocraniocutaneous lipomatosis: A new neurocutaneous syndrome. Br J Dermatol 1981; 104: 89–96
   Google Scholar
• Miyao M, Saito T, Yamamoto Y, et al. Encephalocraniocutaneous lipomatosis: A recently described neurocutaneous syndrome. Childs Brain 1984; 11: 280–284
   Google Scholar
• Schlack HG, Skopnik H. Encephalocraniocutane Lipomatose und linearer Naevus sebaceus. Mschr Kinderheilk 1985; 133: 135–137
   Google Scholar
• Fishman MA. Encephalocraniocutaneous lipomatosis. J Child Neurol 1987; 2: 186–193
   Google Scholar
• Savage MG, Heldt L, Dann JJ, Bump RL. Encephalocraniocutaneous lipomatosis and mixed odontogenic tumours. J Oral Maxillofac Surg 1985; 43: 617–620
   Google Scholar
• Alfonso I, Lopez PF, Cullen RF, Martin-Jimenez R, Bejar R. Spinal cord involvement in encephalocraniocutaneous lipomatosis. Pediatr Neurol 1986; 2: 380–384
   Google Scholar
• Delleman JW, Oorthuys J WE. Orbital cyst in addition to congenital, cerebral and focal dermal malformations: A new entity?. Clin Genet 1981; 19: 191–198
   PubMedGoogle Scholar
• Ferguson JW, Hutchison HT, Rouse BM. Ocular, cerebral and cutaneous malformations: confirmation of an association. Clin Genet 1984; 25: 464–469
   Google Scholar
• Delleman JW, Oorthuys J WE, Bleeker-Wagemakers EM, ter Haar BG, Ferguson JW. Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity. Clin Genet 1984; 25: 470–472
   Google Scholar
• Wilson RD, Traverse L, Hall JG, Flodmark CO, Rootman J. Oculocerebrocutaneous syndrome. Am J Ophthalmol 1985; 99: 142–148
   Google Scholar
• Al-Galazi LI, Donnai D, Berry SA, Say B, Mueller RF. The oculocerebrocutaneous (Delleman) syndrome. J Med Genet 1988; 25: 773–778
   Google Scholar
• Giorgi PL, Gabrielli O, Catassi C, Coppa GV. Oculo-cerebro-cutaneous syndrome: description of a new case. Eur J Pediatr 1989; 148: 325–326
   Google Scholar
• Hennekam R CM, Beemer FA, Bleeker-Wagemakers EM, Hamel BC, Oorthuys HW. Oculocerebrocutaneous syndrome. J Med Genet 1990; 27: 69–70
   Google Scholar
• Lauras B, Damon G, Allard D, Claudy A, Chavrier Y. Syndrome oculocérébrocutané ou syndrome de Delleman et Oorthuys. Pédiatrie 1990; 45: 193–196
   Google Scholar
• Brodsky MC, Harper RA, Keppen LD, Glasier CM. Anophthalmia in Delleman syndrome. Am J Med Genet 1990; 37: 157–158
   Google Scholar
• Renard G, Fontaine M, Dhermy P, Caquet N. Microphtalmie bilatérale avec kystes orbitaires associée a des appendices faciaux surnumeraires. Bull Mém Soc Franç Ophtalmol 1964; 77: 297–320
   Google Scholar
• Ladenheim J, Metrick S. Congenital cryptophthalmos with cyst formation. Am J Ophthalmol 1956; 41: 1059–1062
   Google Scholar
• Dolfuss MA, Marx P, Langlois J, Clement JC, Forthomme J. Congenital cystic eyeball. Am J Ophthalmol 1968; 66: 504–509
   Google Scholar
• Braun-Vallon S. Bull Mém Soc Franc Ophtalmol 1964; 77: 316–318, (comment on Renard et al, ref. no. 20)
   Google Scholar
• Clericuzio C. Oculocerebrocutaneous syndrome and the family of neurodermal disorders: developmental considerations. Proc Greenwood Genet Cent 1989; 9: 74, (only)
   Google Scholar
• Hoo JJ, Kapp-Simon K, Rollnick B, Chao M. Oculocerebrocutaneous (Delleman) syndrome: a pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am J Med Genet 1991; 40: 290–293
   Google Scholar
• Fishman MA. Encephalo-cranio-cutaneous lipomatosis. Neurocutaneous Diseases, a Practical Approach, MR Gomez. Butterworths, Boston 1987; 349–355
   Google Scholar
• Temple IK, Hurst JA, Hing S, Butler L, Baraitser M. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia and anterior chamber eye anomalies. J Med Genet 1990; 27: 56–58
   Google Scholar
• Al-Galazi LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR. Two 46, XX, t(X; Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet 1990; 27: 59–63
   Google Scholar
• Allanson J, Richter S. Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. J Med Genet 1991; 28: 143–144
   Google Scholar
• Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987; 16: 899–906
   PubMed Web of Science ®Google Scholar
• Hall JG. Review and hypothesis: Somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 1988; 43: 355–363
   PubMed Web of Science ®Google Scholar
• Bouwes Bavinck JN, Weaver DD. Subclavian artery disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil and Moebius anomalies. Am J Med Genet 1986; 23: 903–918
   Google Scholar
• Fryer AE. Scalp lipomas and cerebral malformations, report of a case and review of the literature. Clin Dysmorph 1992; 1: 99–102
   Google Scholar