« Previous
Next »
Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 3
, Pages 276-282
, September 2008
Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII)
References
- . DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q) . Am J Med Genet . 1997;73:408–411
- . von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies . Am J Med Genet . 1994;52:272–278
-
.
Phokomelie, meningoenzephalozele und hypoplastische thrombocytopenie, ein neues syndrom?
.
In:
Klinische genetik in der pädiatrie. I. Symposion Kiel, Juli 1978
. Stuttgart: Georg Thieme; 1979;p. 70–74
- . Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities . Lancet . 1980;316:485
- . Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline . Am J Med Genet . 1994;53:33–38
- . DK-phocomelia syndrome in a child with a long follow-up . Am J Med Genet . 1994;52:269–271
- . von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development . Am J Med Genet A . 2004;126:299–302
-
.
Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
.
J Med Genet
. 2002;39:145–148
-
.
Fetal warfarin syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. Philadelphia: Elsevier Saunders; 2006;p. 656–657
- . Anticoagulant therapy with cardiac valve prosthesis during pregnancy . Obstet Gynecol . 1973;42:785–793
-
.
Le rôle de la coumadine dans les malformations congénitales
.
Med Hyg
. 1975;33:1454–1457
- . Craniotelen-cephalic dysplasia in sisters: further delineation of a possible syndrome . Am J Med Genet . 1983;14:557–565
-
.
Telencephalic dysplasia with outgrowth of the frontal bone
.
Sem Hop
. 1958;34:1893–1896
[In French]
- . Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia . Am J Med Genet A . 2003;117:72–75
- . Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance . Hum Genet . 1987;77:203–204
- . Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? . Am J Med Genet . 1994;51:247–250
- . Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature . Childs Nerv Syst . 2000;16:176–179
- . Teratogenic potential of cocaine hydrochloride in CF-1 mice . J Pharm Sci . 1980;69:703–706
- . Teratogenicity of cocaine in humans . J Pediatr . 1987;110:93–96
- . Maternal cocaine abuse: the spectrum of radiologic abnormalities in the neonatal CNS . AJNR Am J Neuroradiol . 1991;12:951–956
- . Role of oxygen free radicals in cocaine-induced vascular disruption in mice . Teratology . 1994;49:192–201
- . Parental recreational drug use and risk for neural tube defects . Am J Epidemiol . 1996;144:1155–1160
- . Incidence and description of structural brain abnormalities in newborns exposed to cocaine . J Pediatr . 1998;132:291–294
- COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED) . Am J Med Genet A . 2005;132:33–35
- Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome) . Am J Med Genet . 1998;80:115–120
- . Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect . Am J Med Genet . 1993;45:614–618
- Functional haploin-sufficiency of the human homeobox gene MSX2 causes defects in skull ossification . Nat Genet . 2000;24:387–390
- Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna . Hum Mol Genet . 2000;9:1251–1255
- . A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP) . Am J Med Genet A . 2005;139:45–47
- . Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype . Eur J Hum Genet . 2006;14:151–158
-
.
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)
.
J Med Genet
. 2000;37:916–920
- Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects . Nat Genet . 2001;27:17–18
- . A novel locus for parietal foramina maps to chromosome 4q21–q23 . J Hum Genet . 2003;48:420–424
- . Vertebrate aristaless-related genes . Int J Dev Biol . 1999;43:651–663
- . Msx homeobox gene family and craniofacial development . Cell Res . 2003;13:429–442
- . Congenital hereditary cranium bifidum occultum frontalis with a review of anatomical variations in lower medsagittal region of frontal bones . Radiology . 1953;61:60–66
- . Parietal foramina complicated by meningocele . Childs Nerv Syst . 1985;1:234–237
- . Enlarged parietal foramina: association with cerebral venous and cortical anomalies . Neurology . 2000;54:1175–1178
- . Aneurysmal subarachnoid haemorrhage in the first year of life . Childs Nerv Syst . 2005;21:347–348
- Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome . Nat Genet . 1995;9:165–172
- . Apert syndrome with frontonasal encephalocele . Am J Med Genet . 1985;21:777–783
- . An unusual type of acro-cephalosyndactyly with bilateral parietooccipital “encephalocele,” micropenis, and severe mental retardation . Am J Med Genet . 1990;36:265–268
- . Apert's syndrome with occipital encephalocele and absence of corpus callosum . Childs Nerv Syst . 1991;7:231–232
- . The central nervous system in the Apert syndrome . Am J Med Genet . 1990;35:36–45
- . Unusual cranial aspects of the Apert syndrome . J Craniofac Genet Dev Biol . 1994;14:48–56
- . Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome . Am J Med Genet A . 2006;140:1337–1338
- . Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation . Am J Med Genet . 1995;58:348–352
- . Craniomicromelic syndrome: report of a third case . Am J Med Genet . 1999;87:360–361
- XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome . Am J Med Genet . 1997;70:413–414
- . XX-agonadism in a fetus with multiple congenital anomalies . Am J Med Genet A . 2004;126:104–105
- . Apparently new “anophthalmia-plus” syndrome in sibs . Am J Med Genet . 1995;58:113–114
- . Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome . Am J Med Genet . 1997;73:36–40
- . Anophthalmia-plus syndrome: a clinical report and review of the literature . Am J Med Genet A . 2007;143:64–68
- . Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst . J Med Genet . 1990;27:403–404
- Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance . Am J Med Genet A . 2003;122:174–179
- . PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects . Am J Med Genet . 1993;47:807–811
-
Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study
.
Am J Med Genet A
. 2008;146:1128–1133
- . Bread fortification with folic acid, vitamin B12, and vitamin B6 in Hungary . Lancet . 1998;352:1225
- . Autosomal dominant occipital cephalocele . Neurology . 2004;62:1888–1890
- . Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations . Am J Med Genet A . 2006;140:1458–1462
- Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity . Hum Genet . 2008;123:237–245
- . Familial occurrence of atretic cephaloceles . Pediatr Neurosurg . 1996;25:260–264
- . A five-generation family with occipital encephalocele . Clin Neurol Neurosurg . 2007;109:81–84
PII: S1028-4559(08)60124-2
doi: 10.1016/S1028-4559(08)60124-2
© 2008 Taiwan Association of Obstetric & Gynecology. Published by Elsevier Inc. All rights reserved.
« Previous
Next »
Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 3
, Pages 276-282
, September 2008
