Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: Disorganization phenotype?

Pediatric and Developmental Pathology

Volumn 4, Issue 2, 2001, Pages 192-202

  Stanek, Jerzy ^a   De Courten Myers, Gabrielle ^a   Spaulding, Abbot G ^a   Strub, William ^a   Hopkin, Robert J ^b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Amnion rupture sequence; Disorganization; Eye dysgenesis; Limb body wall complex; Meromelia; Pituitary ectopia; Proboscis

Indexed keywords

AMNION; ARTICLE; CASE REPORT; CRANIOFACIAL MALFORMATION; FEMALE; HUMAN; HUMAN TISSUE; LIMB MALFORMATION; MICROPHTHALMIA; NEWBORN; NOSE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; ADULT; AMNIOTIC BAND SYNDROME; CRANIOFACIAL ABNORMALITIES; ECTROMELIA; EYE ABNORMALITIES; FEMALE; FETAL MEMBRANES, PREMATURE RUPTURE; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; NOSE; PITUITARY GLAND; PREGNANCY; TWINS, DIZYGOTIC;

EID: 0035122426     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100240010131     Document Type: Article

References (40)

1. Limb body wall malformation complex: An embryologic etiology?
2. Orbital diameters: A new parameter for prenatal diagnosis and dating
3. Anterior basal encephalocele of the neonatal and infantile period
4. Transphenoidal meningohydroencephalocele
5. Frontonasal and craniofrontonasal dysplasia: Preoperative quantitative description of the cranio-orbito-zygomatic region based on computed and conventional tomography
6. Experience with frontonasal dysplasia of varying severity
7. Frontonasal dysplasia: Analysis of 21 cases and literature review
8. Acrocallosal syndrome: A case report
9. Molecular genetic approaches to the study of human craniofacial dysmorphologies
10. Holoprosencephaly and hypognathia with two proboscides: Report of a case and review of unusual proboscides
11. Proboscis lateralis, micropthalmos, and cystic degeneration of the optic nerve
12. Lateral nasal proboscis
13. Meningeal angiomatosis, arrhinencephaly, agenesis of the corpus callosum and large hamartoma of the brain with neoplasia in an infant having bilateral nasal proboscis
14. Proboscis lateralis: Case report and embryologic analysis
15. Amniotic bands as a cause of ocular anomalies
16. Chorioretinal lacuna in the amniotic band syndrome
17. A new craniofacial disorder involving hypertelorism and malformations of external nose, palate and pituitary gland
18. The adenohypophysis and the cranial base in early human development
19. Immunohistochemical survey of migration of human anterior pituitary cells in developmental, pathological, and clinical aspects: A review
20. Hypopituitarism following extirpation of a pharyngeal pituitary
21. Pharyngosellar pituitary: A rare developmental anomaly of the pituitary gland
22. Brain pathology following fetal vascular occlusion: An experimental study
23. Craniofacial anomalies in twins
24. Amniotic band facies
25. Amniotic band syndrome
26. Amniotic band syndrome: Reevaluation of its pathogenesis
27. Limb body wall complex: I. Pathogenesis
28. Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: Discrete disruption sequences with pathogenetic overlap
29. The inheritance and expression of disorganization, an unusual mutation in the mouse
30. Disorganization in mice and humans and its relation to sporadic birth defects
31. Implications of malformations not due to amniotic bands in the amniotic band sequence
32. Disorganization: A model for 'early amnion rupture'?
33. Familial amniotic bands
34. Two additional patients representing the possible human homologue for the mouse mutant disorganization (Ds)
35. Multiple anomalies possibly caused by a human homologue to the mouse disorganization (Ds) gene
36. Developmental anomalies in monozygous twins resembling the human homologue of the mouse mutant disorganization
37. Disorganization: A possible cause of apparent conjoint twinning
38. A possible human homologue for the mouse mutant disorganization
39. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation