Clinical aspects of defects in the determination of laterality

American Journal of Medical Genetics

Volumn 101, Issue 4, 2001, Pages 345-355

  Aylsworth, Arthur S ^a,b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

Asplenia; Heterotaxy; Kartagener syndrome; Polyasplenia; Polysplenia; Right left axis; Situs; Situs ambiguus; Situs inversus

Indexed keywords

TERATOGENIC AGENT;

ACCESSORY SPLEEN; ASPLENIA; AUTOSOMAL DISORDER; AUTOSOMAL RECESSIVE DISORDER; BIRTH DEFECT; BRONCHIECTASIS; CHONDRODYSPLASIA; CILIARY DYSKINESIA; CONFERENCE PAPER; FETUS DEVELOPMENT; GENE EXPRESSION; HETEROTAXY SYNDROME; HOLOPROSENCEPHALY; HUMAN; INFERTILITY; ISOMERISM; KARTAGENER SYNDROME; KIDNEY DYSPLASIA; MOUSE; NONHUMAN; PANCREAS MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; SINUSITIS; SITUS INVERSUS; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES; ANIMALS; BODY PATTERNING; DISEASE MODELS, ANIMAL; FUNCTIONAL LATERALITY; HUMANS; PHENOTYPE;

EID: 0035879412     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1219     Document Type: Conference Paper

References (153)

1. Genetical and ultrastructural aspects of the immotilecilia syndrome
2. Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome
3. Heterotaxia syndrome and autosomal dominant inheritance
4. Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family
5. The spleen
6. Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: A new syndrome?
7. New syndrome?: Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts
8. Mutations in the EGF-CFC gene, CRYPTIC, cause human left-right axis abnormalities and transposition of the great arteries
9. Loss of function mutations in the EGF-CFC gene CRYPTIC are associated with human left-right laterality defects
10. Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping
11. The DNAH11 (axonemal heavy chain dynein type 11) gene is mutated in one form of primary ciliary dyskinesia
12. Short rib-polydactyly syndrome, type Verma-Naumoff
13. Renal-hepatic-pancreatic dysplasia: A syndrome reconsidered
14. Short rib-polydactyly syndrome: A single or heterogeneous entity? A re-evaluation prompted by four new cases
15. Primary ciliary dyskinesia: A genome-wide linkage analysis reveals extensive locus heterogeneity
16. Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses
17. Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic- pancreatic dysplasia: Separate entities or disease spectrum?
18. Absent inferior vena cava, symmetrical liver, splenic agenesis, and situs inversus, and their embryology
19. Human situs determination is probably controlled by several different genes
20. The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus
21. Genetics of human situs abnormalities
22. Autosomal dominant transmission of familial laterality defects
23. Biliary atresia and other structural anomalies in the congenital polysplenia syndrome
24. Isolation of several human axonemal dynein heavy chain genes: Genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment
25. Familial splenic anomaly syndrome
26. Renal dysplasia and asplenia in two sibs
27. Camptomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia
28. Familial situs inversus and congenital heart defects
29. Biliary atresia splenic malformation syndrome: An etiologic and prognostic subgroup
30. Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus
31. Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia
32. Heterotaxy with left atrial isomerism in a patient with deletion 18p
33. Dextrocardia with and without situs viscerum inversus in two sibs
34. Ellis-van Creveld syndrome associated with complete situs inversus
35. Congenital aglossia and situs inversus
36. Liver transplantation in children with biliary atresia and polysplenia syndrome
37. A submicroscopic deletion in Xq26 associated with familial situs ambiguus
38. Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus
39. The asplenia syndrome: A review of significant extracardiac structural abnormalities in 29 necropsied patients
40. Aortic valve and arch anomalies in the congenital asplenia syndrome. Case report, literature review and re-examination of the embryology of the congenital asplenia syndrome
41. Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]
42. Caudal deficiency and asplenia anomalies in sibs
43. A role of the cryptic gene in the correct establishment of the left-right axis
44. Consanguinity and complex cardiac anomalies with situs ambiguus
45. Polysplenia syndrome detected in adulthood: Report of eight cases and review of the literature
46. X-linked situs abnormalities result from mutations in ZIC3
47. Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1
48. Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1
49. Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia
50. Familial asplenia
51. Polyasplenia complex with mesocardia and renal agenesis in an infant of a diabetic mother
52. Familial polysplenia and cardiovascular defects
53. Situs inversus in homozygous mice without immotile cilia
54. The murine situs inversus viscerum (iv) gene responsible for visceral asymmetry is linked tightly to the Igh-C cluster on chromosome 12
55. Incidental discovery of asplenia syndrome, with situs inversus and a normal heart by radionuclide biliary imaging. A case report
56. Otocephaly-midline malformation association
57. Bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis in a boy
58. Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4
59. Visceral inversion and associated anomalies in the mouse
60. Microglossia, hypodontia, micrognathia, situs inversus
61. Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation
62. Implications of agenesis of the spleen on the pathogenesis of cono-truncus anomalies in childhood: Analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases
63. Familial dysplasia of kidneys, liver and pancreas
64. Ciliary dyskinesia in the nose and paranasal sinuses
65. Spectrum of congenital anomalies associated with biliary atresia
66. Familial asplenia, other malformations, and sudden death
67. De novo balanced translocation (6;18)(q21;q21.3 or q22) [corrected] in a patient with heterotaxia
68. A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects
69. Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24)
70. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
71. Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance
72. Rate and type of congenital anomalies among offspring of diabetic women
73. Random determination of a developmental process. Reversal of normal visceral asymmetry in the mouse
74. Heart malformations in mice homozygous for a gene causing situs inversus
75. Agnathia, holoprosencephaly, and situs inversus: Report of a case
76. Asplenia in two father-son pairs
77. Renal-hepatic-pancreatic dysplasia and its variants
78. Asplenia syndrome. A study of congenital anomalies in 16 cases
79. Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: Compound heterozygosity Jeune-Mohr and Jeune-Ivemark?
80. Polysplenia syndrome and splenic hypoplasia associated with extrahepatic biliary atresia
81. The Kartagener syndrome - An electron microscopic studies of biopsied mucosa
82. Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II
83. X-linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects
84. Anomalous development of the hepatobiliary system in the Inv mouse
85. A locus for primary ciliary dyskinesia maps to chromosome 19q
86. Agnathia, holoprosencephaly, and situs inversus: A third report
87. X-linked laterality sequence in a family with carrier manifestations
88. Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome
89. Congenital asplenia and anomalies of the gastrointestinal tract
90. Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness"
91. Inheritance of Kartagener syndrome
92. Visceroatrial heterotaxy syndrome in the NOD mouse with special reference to atrial situs
93. Influence of genetic and maternal diabetes in the pathogenesis of visceroatrial heterotaxy in mice
94. Splenic agenesis and multilobulate spleen
95. Digestive tract disorders associated with asplenia/polysplenia syndrome
96. Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes
97. Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia
98. The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse
99. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene
100. Editorial comment on the paper by de la Monte and Hutchins on familial polyasplenia
101. Agnathiaholoprosencephaly-situs inversus
102. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
103. Agnathia, situs inversus, and associated malformations
104. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
105. Polysplenia: A review of 146 cases
106. Agnathia malformation complex associated with a cystic distention of the oral cavity and hydranencephaly
107. Congenital absence of the spleen; syndrome with atrioventricularis and situs inversus
108. Zic3-deficient mice manifest defects in left-right axis development
109. Congenital absence of the spleen and associated anomalies
110. Microdeletion of chromosome subband 2q37.3 in two patients with abnormal situs viscerum
111. Agnathia, holoprosencephaly, and situs inversus
112. Polyasplenia, caudal deficiency, and agenesis of the corpus callosum
113. Syndromes of asplenia and polysplenia. A review of cardiac and noncardiac malformations in 60 cases with special reference to diagnosis and prognosis
114. Kartagener's syndrome and the syndrome of immotile cilia
115. Syndrome of congenital cardiac disease with asplenia. Distinction from other forms of congenital cyanotic cardiac disease
116. Severe fetal malformations associated with trisomy 16 confined to the placenta
117. Polysplenia and Kartagener syndromes in a sibship: Association with abnormal respiratory cilia
118. Trisomy 3 (p23-pter) resulting from maternal translocation, t (3; 4)(p23; q35)
119. Situs inversus totalis associated with complex cardiovascular anomalies
120. Morphogenesis of malformations in hamsters caused by retinoic acid: Relation to dose and stage at treatment
121. Congenital structural abnormalities in biliary atresia: Evidence for etiopathogenic heterogeneity and therapeutic implications
122. Asplenia syndrome with congenital heart disease and tetralogy of Fallot in siblings
123. Role of vitamin A in the formation of congenital heart defects
124. Three infants of diabetic mothers with malformations of left-right-asymmetry - Further evidence for the aetiological role of diabetes in this malformation spectrum
125. Defects in the determination of left-right asymmetry
126. Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan
127. A case of agnathia, situs inversus, and a normal central nervous system
128. Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries
129. Molecular motors: The driving force behind mammalian left-right development
130. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice
131. Biliary atresia associated with congenital structural anomalies
132. New developments in the diagnosis of Kartagener's syndrome
133. Kartagener's syndrome: Clinical presentation and cardiosurgical aspects
134. The definition of cardiac malpositions with echocardiography and computed tomography
135. Sibs with the polyasplenia developmental field defect
136. Renal-hepatic-pancreatic dysplasia: An autosomal recessive malformation
137. Unusual short rib-polydactyly syndrome
138. Camptomelia, polycystic dysplasia, and cervical lymphocele in two sibs
139. Short rib-polydactyly syndrome and pericentric inversion of chromosome 4
140. Asplenia and polysplenia syndromes
141. Biliary atresia and the polysplenia syndrome: Its impact on final outcome
142. Left-right development: The roles of nodal cilia
143. Sepsis and congenital asplenia
144. Balanced translocation 12/13 and situs abnormalities: Homology of early pattern formation in man and lower organisms?
145. The spectrum of heterotaxic syndromes
146. Conserved requirement for EGF-CFC genes in vertebrate left-right axis formation
147. Bilateral renal dysplasia accompanied by pancreatic fibrosis, meconium ileus, and situs inversus totalis
148. Left-right development in Xenopus and zebrafish
149. The genetics of midline and cardiac laterality defects
150. Mutations within the IC78 (DNAI1) gene in patients with primary ciliary dyskinesia (PCD)
151. Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship
152. Familial situs inversus and congenital heart defects