New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

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Published in:	American Journal of Medical Genetics Part A Vol. 124A; no. 2; pp. 202 - 208
Main Authors:	Giampietro, Philip F., Babu, Deepti, Koehn, Monica A., Jacobson, Daniel M., Mueller-Schrader, Karla A., Moretti, Cara, Patten, Stella F., Shaffer, Lisa G., Gorlin, Robert J., Dobyns, William B.
Format:	Report
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 15-01-2004
Subjects:	basaloid follicular hamartomas hypoplastic corpus callosum macrocephaly microphthalmia microphthalmia with linear skin defects morning glory optic disc anomaly oculocerebrocutaneous syndrome optic nerve tumor polysyndactyly terminal osseous dysplasia and pigmentary defects
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Author	Gorlin, Robert J. Giampietro, Philip F. Dobyns, William B. Moretti, Cara Jacobson, Daniel M. Koehn, Monica A. Mueller-Schrader, Karla A. Babu, Deepti Patten, Stella F. Shaffer, Lisa G.
Author_xml	– sequence: 1 givenname: Philip F. surname: Giampietro fullname: Giampietro, Philip F. email: giampietro.philip@marshfieldclinic.org organization: Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin – sequence: 2 givenname: Deepti surname: Babu fullname: Babu, Deepti organization: Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin – sequence: 3 givenname: Monica A. surname: Koehn fullname: Koehn, Monica A. organization: Department of Neurology, Marshfield Clinic, Marshfield, Wisconsin – sequence: 4 givenname: Daniel M. surname: Jacobson fullname: Jacobson, Daniel M. organization: Department of Neurology, Marshfield Clinic, Marshfield, Wisconsin – sequence: 5 givenname: Karla A. surname: Mueller-Schrader fullname: Mueller-Schrader, Karla A. organization: Department of Neuropsychology, Marshfield Clinic, Marshfield, Wisconsin – sequence: 6 givenname: Cara surname: Moretti fullname: Moretti, Cara organization: Department of Dermatology, Marshfield Clinic, Marshfield, Wisconsin – sequence: 7 givenname: Stella F. surname: Patten fullname: Patten, Stella F. organization: Department of Dermatology, Marshfield Clinic, Marshfield, Wisconsin – sequence: 8 givenname: Lisa G. surname: Shaffer fullname: Shaffer, Lisa G. organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas – sequence: 9 givenname: Robert J. surname: Gorlin fullname: Gorlin, Robert J. organization: Department of Oral Pathology and Genetics, University of Minnesota, Minneapolis, Minnesota – sequence: 10 givenname: William B. surname: Dobyns fullname: Dobyns, William B. organization: Department of Human Genetics, University of Chicago, Chicago, Illinois
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References	Fryssira H, Papathanassiou M, Barbounaki J, Orfanou I, Lagona E, Paikos P. 2002. A male with polysyndactyly, linear skin defects, and sclerocornea. Goltz syndrome versus MIDAS. Clin Dysmorphol 11: 277-281. Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. 1999. Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3. Genomics 59: 77-84. Narbay G, Meire F, Verloes A, Casteels I, Devos E. 1996. Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. Bull Soc Belge Ophtalmol 261: 65-70. Allanson J, Richter S. 1991. Linear skin defects and congenital microphthalmia: A new syndrome at Xp22.2. J Med Genet 28: 143-144. Moog U, Kruger G, Stengel B, De Die-Smulders C, Dykstra S, Bleeker-Wagemakers E. 1996. Oculocerebrocutaneous syndrome: A case report, a follow-up, and differential diagnostic considerations. Genet Couns 7: 257-265. 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. Bacino CA, Stockton DW, Sierra RA, Heilstedt HA, Lewandowski R, Van den Veyver IB. 2000. Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome. Am J Med Genet 94: 102-112. Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. 1962. Focal dermal hypoplasia. Arch Dermatol 86: 708-717. Goldhammer Y, Smith JL. 1975. Optic nerve anomalies in basal encephalocele. Arch Ophthalmol 93: 115-118. Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. 2002. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet 11: 3237-3248. Goltz RW. 1992. Focal dermal hypoplasia syndrome. An update. Arch Dermatol 128: 1108-1111. Irvine AD, Stewart FJ, Bingham EA, Nevin NC, Boston VE. 1996. Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. Am J Med Genet 62: 213-215. Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hultén M, Gould C, Baldini A, Zoghbi HY, Ballabio A. 1994. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization. Am J Med Genet 49: 229-234. Breuning MH, Oranje AP, Langemeijer RA, Hovius SE, Diepstraten AF, den Hollander JC, Baumgartner N, Dwek JR, Sommer A, Toriello H. 2000. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations. Am J Med Genet 94: 91-101. Manschot WA. 1990. Morning glory syndrome: A histopathological study. Br J Ophthalmol 74: 56-58. Delleman JW, Oorthuys JW. 1981. Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity? Clin Genet 19: 191-198. al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR. 1990. Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3. J Med Genet 27: 59-63. Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. 2000. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet 66: 1461-1464.
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SubjectTerms	basaloid follicular hamartomas hypoplastic corpus callosum macrocephaly microphthalmia microphthalmia with linear skin defects morning glory optic disc anomaly oculocerebrocutaneous syndrome optic nerve tumor polysyndactyly terminal osseous dysplasia and pigmentary defects
Title	New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria
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