Supplementary Data

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Supplementary Reference List for Table 5
Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular
abnormalities. Electroencephalogr Clin Neurophysiol 1965;19:609-10.
al-Gazali LI, Bakalinova D. Autosomal recessive syndrome of macrocephaly, multiple epiphyseal
dysplasia and distinctive facial appearance. Clin Dysmorphol 1998;7:177-84.
Al-Mazrou KA, Al-Rekabi A, Alorainy IA, Al-Kharfi T, Al-Serhani AM. Pai syndrome: a report of a case
and review of the literature. Int J Pediatr Otorhi 2001;61:149-53.
Barkovich AJ, Simon EM, Walsh CA. Callosal agenesis with cyst: a better understanding and new
classification. Neurology 2001;56:220-7.
Begum H, Nayek K. Marden Walker Syndrome. Indian Pediatr 2002;39:878.
Castori M, Rinaldi R, Bianchi A, Caponetti A, Assumma M, Grammatico P. Pai syndrome: first patient
with agenesis of the corpus callosum and literature review. Birth Defects Res A Clin Mol Teratol
2007;79:673-9.
Coban YK, Boran C, Omeroglu SA, Okur E. Pai syndrome: an adult patient with bifid nose and frontal
hairline marker. Cleft Palate Craniofac J. 2003;40:325-8.
Corona-Rivera A, Corona-Rivera JR, Bobadilla-Morales L, Garcia-Cobian TA, Corona-Rivera E.
Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo
t(2;4) (q14.2;q35). Am J Med Genet 2000;90:423-6.
Coto-Puckett WL, Gilbert-Barness E, Steelman CK, Stuart T, Robinson HB, Shehata BM. A spectrum of
phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.
Fetal Pediatr Pathol 2010;29:108-19.
Dempsey MA, Torres-Martinez W, Walsh LE. Two cases further delineating the Sakoda complex. Am J
Med Genet A 2007;143:370-6.
Devriendt K, D'Espallier L, Fryns JP. Mental retardation, distinct craniofacial dysmorphism, and central
nervous system malformation: confirmation of a syndrome. J Med Genet 1996;33:224-6.
Devriendt K, Naulaers G, Matthijs G, Van Houdt K, Devlieger H, Gewillig M, et al. Agenesis of corpus
callosum and anophthalmia in the asplenia syndrome. A recognisable association? Ann Genet
1997;40:14-7.
Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS. Clinical, cytogenetic, and
pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet 1989;32:461-7.
Ehara H, Kurimasa A, Ohno K, Takeshita K. New syndrome with the Sakoda complex, bilateral
anophthalmia, and cortical dysgenesis. Pediatr Neurol 1998;18:445-51.
Encha Razavi F, Larroche JC, Roume J, Gonzales M, Kondo HC, Mulliez N. Lethal familial fetal akinesia
sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome. Am J Med
Genet 1996;62:16-22.
Fryns JP, Chrzanowska K, Van den Berghe H. Hypohidrotic ectodermal dysplasia, primary
hypothyroidism, and agenesis of the corpus callosum. J Med Genet 1989;26:520-1.
Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, et al. Two new patients
with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of
the sonic hedgehog-patched-GLI pathway. Am J Med Genet A 2008;146A:2589-97.
Guion-Almeida ML, Mellado C, Beltran C, Richieri-Costa A. Pai syndrome: report of seven South
American patients. Am J Med Genet A 2007;143A:3273-9.
Guion-Almeida ML, Richieri-Costa A. Acrocallosal syndrome: report of a Brazilian girl. Am J Med
Genet 1992;43:938-41.
Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear
anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.
Clin Dysmorphol 2001;10:81-6.
Hedera P, Innis JW. Possible third case of Lin-Gettig syndrome. Am J Med Genet 2002;110:380-3.
Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi
syndrome. Am J Med Genet A 2008;146A:2871-8.
Imaizumi K, Ishii T, Masuno M, Kuroki Y. Association of holoprosencephaly, ectrodactyly, cleft lip/cleft
palate and hypertelorism: a possible third case. Clin Dysmorphol 1998;7:213-6.
Kiuchi M, Kawachi Y, Kimura Y. Sudden infant death due to asplenia syndrome. Am J Forensic Med
Pathol 1988;9:102-4.
Lin AE, Gettig E. Craniosynostosis, agenesis of the corpus callosum, serve mental retardation,
distinctive facies, camptodactyly, and hypogonadism. Am J Med Genet 1990;35:582-5.
LudmiƂa B, Dariusz P, Jolanta G, Artur A, Piotr K. Fryns Syndrome - Case Report. Documentation of
Anomalies not Described Previously and Review of the Literature. Pol Przegl Chir 2010;81:149-55.
Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE. Neu-Laxova syndrome: detailed prenatal
diagnostic and post-mortem findings and literature review. Am J Med Genet A 2004;125A:240-9.
Masuno M, Imaizumi K, Aida N, Nishimura G, Kimura J, Kuroki Y. Frontonasal dysplasia,
macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS
structural anomalies: another observation. Clin Dysmorphol 2000;9:59-60.
McGoey R, Varma A, Lacassie Y. Siblings with phenotypic overlap with Toriello-Carey syndrome and
complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of
the literature and additional evidence for genetic heterogeneity. Am J Med Genet A 2010;152A:306873.
Mingarelli R, Mokini V, Castriota Scanderbeg A, Dallapiccola B. Brachycephalosyndactyly with ptosis,
cataract, colobomas, and linear areas of skin depigmentation. Clin Dysmorphol 1999;8:73-5.
Mishima K, Mori Y, Minami K, Sakuda M, Sugahara T. A case of Pai syndrome. Plast Reconstr Surg
1999;103:166-70.
Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: the brain malformation
defines a core phenotype. J Med Genet 2005;42:913-21.
Morgan DW, Evans JN. Developmental nasal anomalies. J Laryngol Otol 1990;104:394-403.
Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD, Jr., Hirschl RB, et al. Fryns syndrome in children
with congenital diaphragmatic hernia. J Pediatr Surg 2002;37:1685-7.
Noack F, Sayk F, Ressel A, Berg C, Gembruch U, Reusche E. Ivemark syndrome with agenesis of the
corpus callosum: a case report with a review of the literature. Prenatal Diag 2002;22:1011-5.
Ozbek S, Saglam H, Ozdamar E. Marden-Walker syndrome with some additional anomalies. Pediatr
Int 2005;47:92-4.
Pai GS, Levkoff AH, Leithiser RE, Jr. Median cleft of the upper lip associated with lipomas of the
central nervous system and cutaneous polyps. Am J Med Genet 1987;26:921-4.
Palmer L, Zetterlund B, Hard AL, Steneryd K, Kyllerman M. Aicardi syndrome: presentation at onset in
Swedish children born in 1975-2002. Neuropediatrics 2006;37:154-8.
Pinar H, Carpenter MW, Abuelo D, Singer DB. Fryns syndrome: a new definition. Pediatr Pathol
1994;14:467-78.
Plauchu H, Encha-Razavi F, Hermier M, Attia-Sobol J, Vitrey D, Verloes A. Lissencephaly type III,
stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. Am J Med Genet
2001;99:14-20.
Preece JM, Kearns DB, Wickersham JK, Grace AR, Bailey CM. Nasal lipoma. J Laryngol Otol
1988;102:1044-6.
Rodriguez JI, Palacios J, Omenaca F, Lorente M. Polyasplenia, caudal deficiency, and agenesis of the
corpus callosum. Am J Med Genet 1991;38:99-102.
Rudnik-Schoneborn S, Zerres K. A further patient with Pai syndrome with autosomal dominant
inheritance? J Med Genet 1994;31:497-8.
Sakoda K, Ishikawa S, Uozumi T, Hirakawa K, Okazaki H, Harada Y. Sphenoethmoidal
meningoencephalocele associated with agenesis of corpus callosum and median cleft lip and palate.
Case report. J Neurosurg 1979;51:397-401.
Shapiro WR, Williams GH, Plum F. Spontaneous recurrent hypothermia accompanying agenesis of the
corpus callosum. Brain 1969;92:423-36.
Shenoy C. Shapiro syndrome. QJM-Mon J Assoc Phys 2008;101:61-2.
Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. [Review]. Am J
Med Genet A 2004;124A:427-33.
Smith CD, Ryan SJ, Hoover SL, Baumann RJ. Magnetic resonance imaging of the brain in Aicardi's
syndrome. Report of 20 patients. J Neuroimaging 1996;6:214-21.
Soekarman D, Fryns JP. Hypohidrotic ectodermal dysplasia, central nervous system malformation,
and distinct facial features: confirmation of a distinct entity? J Med Genet 1993;30:245-7.
Tambasco N, Corea F, Bocola V. Subtotal corpus callosum agenesis with recurrent hyperhidrosishypothermia (Shapiro syndrome). Neurology 2005;65:124.
Temple IK, Eccles DM, Winter RM, Baraitser M, Carr SB, Shortland D, et al. Craniofacial abnormalities,
agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry
Jones syndrome. Clin Dysmorphol 1995;4:116-29.
Theys T, Van Geet C, Didgar M. Novel findings in the Marden-Walker syndrome. J Pediatr Surg
2011;46:e35-7.
Thomas ER, Wakeling EL, Goodman FR, Dickinson JC, Hall CM, Brady AF. Mild case of Curry-Jones
syndrome. Clin Dysmorphol 2006;15:115-7.
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, et al. Toriello-Carey syndrome: delineation
and review. Am J Med Genet A 2003;123A:84-90.
Ugras M, Kocak G, Ozcan H. Neu-Laxova syndrome: a case report and review of the literature. J Eur
Acad Dermatol Venereol 2006;20:1126-8.
Vaccarella F, Pini Prato A, Fasciolo A, Pisano M, Carlini C, Seymandi PL. Phenotypic variability of Pai
syndrome: report of two patients and review of the literature. Int J Oral Maxillofac Surg
2008;37:1059-64.
Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, et al. Hartsfield
holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J
Med Genet A 2009;149A:1476-81.
Winter RM. Cerebro-fronto-facial syndrome: three types? Clin Dysmorphol. 2001;10:79-80.
Yamagata T, Momoi M, Miyamoto S, Kobayashi S, Kamoshita S. Multi-institutional survey of the
Aicardi syndrome in Japan. Brain Dev 1990;12:760-5.
Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CD, Guion-Almeida ML, Richieri-Costa A.
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3,
GLI2, TP73L, and DHCR7 as candidate genes. Am J Med Genet A 2009;149A:1277-9.
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