« Previous
Next »
Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2
, Pages 111-120
, June 2007
Syndromes and Disorders Associated with Omphalocele (III): Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others
References
- . Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick–Needles syndrome . Eur J Hum Genet . 2007;15:3–9
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans . Nat Genet . 2003;33:487–491
-
.
Otopalatodigital syndrome and omphaloceles
.
Dysmorph Clin Genet
. 1991;5:2–10
-
.
Prenatal diagnosis of oto-palato-digital syndrome type II: the diagnostic problem of a bone dysplasia with multiple malformations
.
Am J Hum Genet
. 1991;49(Suppl):176;
[Abstract]
- . Otopalatodigital syndrome type II associated with omphalocele: report of three cases . Am J Med Genet . 1993;45:481–487
- . Multiple congenital anomalies associated with an oto-palato-digital syndrome type II . Genet Couns . 1993;4:289–294
- . Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II . Clin Dysmorphol . 1994;3:175–179
- . Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes . Am J Med Genet A . 2004;130:277–283
- . Melnick–Needles syndrome in males: a lethal multiple congenital anomalies syndrome . Am J Med Genet . 1987;27:159–173
- . Congenital malformations associated with maternal osteodysplasty. A new malformation complex . Acta Radiol Diagn (Stockh) . 1981;22:369–377
- . Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick–Needles syndrome) . Am J Med Genet . 1982;13:453–463
- Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome . Nat Genet . 1996;14:392–399
- . Identification of a dominant negative homeodomain mutation in Rieger syndrome . J Biol Chem . 2001;276:23034–23041
- . Dosage requirement of Pitx2 for development of multiple organs . Development . 1999;126:4643–4651
- Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra-and periocular mesoderm and right pulmonary isomerism . Development . 1999;126:5749–5758
- Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis . Nature . 1999;401:279–282
- . Function of Rieger syndrome gene in left-right asymmetry and cranio-facial development . Nature . 1999;401:276–278
- . Rieger syndrome with exomphalos . Aust Paediatr J . 1982;18:130–131
- . Are omphalocele and neural tube defects related congenital anomalies? Data from 21 registries in Europe (EUROCAT) . Am J Med Genet . 1997;72:79–84
- Folate-related genes and omphalocele . Am J Med Genet A . 2005;136:8–11
- MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome . Nat Genet . 2006;38:155–157
- The transmembrane protein meckelin (MKS3) is mutated in Meckel–Gruber syndrome and the wpk rat . Nat Genet . 2006;38:191–196
- . Diagnosis of the Meckel–Gruber syndrome at eleven to fourteen weeks' gestation . Am J Obstet Gynecol . 1997;176:316–319
- . First-trimester ultra-sound diagnosis of Meckel–Gruber syndrome . Acta Obstet Gynecol Scand . 2006;85:757–759
-
.
Prenatal diagnosis of Meckel– Gruber syndrome case reports
.
Kaohsiung J Med Sci
. 1995;11:127–132
- . Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome . Birth Defects Orig Artic Ser . 1979;15:347–353
- . Shprintzen– Goldberg omphalocele syndrome: a new patient with an expanded phenotype . Am J Med Genet A . 2006;140:383–384
- . A microdeletion 22q11.2 can resemble Shprintzen–Goldberg omphalocele syndrome . Am J Med Genet A . 2006;140:2838–2839
- . New lethal omphalocele-cleft palate syndrome? . Hum Genet . 1983;64:99; [Letter]
- . Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review . Clin Dysmorphol . 2003;12:63–68
- . Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings . Am J Med Genet . 1987;26:195–202
- . Cerebro-costo-mandibular syndrome: early sonographic prenatal diagnosis . Ultrasound Obstet Gynecol . 1997;10:142–144
- . Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature . Prenat Diagn . 1998;18:1294–1299
- Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission . Prenat Diagn . 2001;21:890–893
-
.
Fetal valproate syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6th edition. Philadelphia: Elsevier Saunders; 2006;p. 654
- Teratogenesis of calcium valproate in rats . Fundam Appl Toxicol . 1983;3:121–126
- . Omphalocele in a newborn baby exposed to sodium valproate in utero . Eur J Pediatr . 1995;154:220–221
-
.
Marshall–Smith syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6th edition. Philadelphia: Elsevier Saunders; 2006;p. 172
-
.
Fibrochondrogenesis
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6th edition. Philadelphia: Elsevier Saunders; 2006;p. 372
- Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 . Hum Mol Genet . 2005;14:1475–1488
-
.
Hydrolethalus syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6th edition. Philadelphia: Elsevier Saunders; 2006;p. 204
- . Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? . Am J Med Genet . 2000;91:231–234
- . Fryns syndrome: a review of the phenotype and diagnostic guidelines . Am J Med Genet A . 2004;124:427–433
- Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2 . Eur J Hum Genet . 2006;14:999–1008
-
Fryns syndrome pheno-type caused by chromosome microdeletions at 15q26.2 and 8p23.1
.
J Med Genet
. 2005;42:730–736
- . Documentation of anomalies not previously described in Fryns syndrome . Am J Med Genet A . 2003;116:179–182
-
.
Fryns syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6th edition. Philadelphia: Elsevier Saunders; 2006;p. 236
- . Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst . J Med Genet . 1990;27:403–404
- . 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
- . Diaphragmatic and multiple midline defects . Am J Med Genet . 1996;63:411
- . Omphalocele with absent radial ray (ORR): a case with diploid-triploid mixoploidy . Am J Med Genet . 1998;75:235–239
- . Heterogeneity in omphalocoele with absent radial ray complex . Am J Med Genet . 1999;82:95–96
- . Infant with midline thoracoabdominal schisis and limb defects . Teratology . 1998;58:205–208
- . An infant with pentalogy of Cantrell and limb defects diagnosed prenatally . Clin Dysmorphol . 2004;13:57–58
- . Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly . Prenat Diagn . 2007;27:86–87
- Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: a distinctive malformation syndrome . Am J Med Genet . 1996;62:48–53
- . Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? . Am J Med Genet . 1993;47:679–682
- . Diaphragmatic herniaexomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance . Am J Med Genet . 1997;68:441–444
- . High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance . Acta Ophthalmol Scand . 2000;78:221–222
- . Donnai–Barrow syndrome: four additional patients . Am J Med Genet A . 2003;121:258–262
- . CHARGE syndrome: an update . Eur J Hum Genet . 2007;15:389–399
-
.
CHARGE syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6th edition. Philadelphia: Elsevier Saunders; 2006;p. 276
-
.
Goltz syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6th edition. Philadelphia: Elsevier Saunders; 2006;p. 622
-
.
Carpenter syndrome
.
In:
Jones KL
editors.
Smith's Recognizable Patterns of Human Malformation
. 6 th edition. Philadelphia: Elsevier Saunders; 2006;p. 484
- Toriello–Carey syndrome: delineation and review . Am J Med Genet A . 2003;123:84–90
-
.
Omphalocele in three generations with autosomal dominant transmission
.
J Med Genet
. 2002;39:184–185
- . Familial omphalocele: considerations in genetic counseling . Am J Med Genet . 1992;44:624–627
- . Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity . Am J Med Genet . 1992;44:668–675
- . Familial occurrence of omphalocele suggesting sex-linked inheritance . Arch Dis Child . 1979;54:142–151
- Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B . Nat Genet . 2004;36:631–635
- . NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome . Nat Genet . 2004;36:636–641
- X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations . Nat Genet . 2006;38:528–530
- . Omphalocele in an infant with Cornelia de Lange syndrome . Clin Dysmorphol . 2006;15:255–256
-
.
The C syndrome of multiple congenital anomalies
.
Birth Defects Orig Artic Ser
. 1969;5:161–166
- . Trigonocephaly and the Opitz C syndrome . J Med Genet . 1985;22:39–45
- . Diagnosis of chromosome 3 duplication q23–qter, deletion p25–pter in a patient with the C (trigonocephaly) syndrome . Am J Med Genet . 1986;23:935–943
- . Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome . Am J Med Genet . 2000;94:311–315
- . Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1) . Am J Med Genet A . 2006;140:1655–1657
- . Opitz “C” trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q . Am J Med Genet A . 2004;131:310–312
- . FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype . Am J Med Genet . 1994;52:92–96
-
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
.
J Med Genet
. 2005;42:328–335
- “C” trigonocephaly syndrome: clinical variability and possibility of surgical treatment . Am J Med Genet . 1990;37:451–456
- . C syndrome and omphalocele: another example . Am J Med Genet . 1992;44:385; [Letter]
- Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? . Am J Med Genet . 1999;85:438–446
- . Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21) . Am J Hum Genet . 1975;27:699–718
- . Trisomy 3q: two clinically similar but cytogenetically different cases . Ann Genet . 1979;22:217–220
- . Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation . J Med Genet . 1996;33:615–617
- . Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q . Clin Genet . 1997;52:196–198
- . Inconsistency of omphalocele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q . Prenat Diagn . 1999;19:591; [Letter]
- . De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele . Fetal Diagn Ther . 2000;15:61–62
- . Omphalocele in trisomy 3q: further delineation of phenotype . Clin Genet . 2003;64:404–413
- . Acrocephalopolydactylous dysplasia . Birth Defects Orig Artic Ser . 1977;13:53–67
- . Elejalde syndrome: a case report . Am J Med Genet . 1997;69:406–408
- . Elejalde syndrome—a case report . Am J Med Genet A . 2006;140:2223–2226
- . Apparent Malpuech syndrome: report on three Brazilian patients with additional signs . Am J Med Genet . 1995;58:13–17
- . Two sibs with Malpuech syndrome . Am J Med Genet . 1999;86:294–299
- . An atypical case suggesting the possibility of overlap between Malpuech and Juberg–Hayward syndromes . Clin Dysmorphol . 2001;10:123–128
- . Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome? . Am J Med Genet . 1993;45:717–720
- . Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs . Am J Med Genet . 1989;33:276–279
- . Familial occurrence of agonadism and multiple internal malformations in pheno-typically normal girls with 46, XY and 46, XX karyotypes, respectively: a new autosomal recessive syndrome . Am J Med Genet . 1993;47:1166–1170
- Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome . Am J Med Genet . 1995;59:62–67
- . Low birth-weight, microcephalic malformation syndrome in a 46, XX girl and her 46, XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies . Am J Med Genet . 2001;101:275–278
- . Possible new autosomal recessive syndrome of lymphedema, hydro-celes, atrial septal defect, and characteristic facial changes . Am J Med Genet . 1996;66:69–71
- . Craniosynostosis, agenesis of the corpus callosum, severe mental retardation, distinctive facies, camptodactyly, and hypogonadism . Am J Med Genet . 1990;35:582–585
- . Possible third case of Lin–Gettig syndrome . Am J Med Genet . 2002;110:380–383
PII: S1028-4559(07)60004-7
doi: 10.1016/S1028-4559(07)60004-7
© 2007 Taiwan Association of Obstetric & Gynecology. Published by Elsevier Inc. All rights reserved.
« Previous
Next »
Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 2
, Pages 111-120
, June 2007
