Aplasia cutis congenita-intestinal lymphangiectasia syndrome
| Aplasia cutis congenita-intestinal lymphangiectasia syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | A combination of aplasia cutis congenita and lymphangiectasia |
| Complications | Death |
| Usual onset | Birth |
| Prevention | none |
| Prognosis | Bad |
| Frequency | very rare, only two cases have been described in medical literature |
| Deaths | - |
Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal lymphangiectasia-induced generalized edema, hypoproteinemia, and lymphopenia.[1][2] It has been described in two Ashkenazi Jewish brothers.[3][4]
References
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aplasia cutis congenita intestinal lymphangiectasia syndrome". www.orpha.net. Retrieved 2022-06-12.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Aplasia cutis congenita intestinal lymphangiectasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-12.
- ^ Bronspiegel, N.; Zelnick, N.; Rabinowitz, H.; Iancu, T. C. (1985-05-01). "Aplasia cutis congenita and intestinal lymphangiectasia. An unusual association". American Journal of Diseases of Children. 139 (5): 509–513. doi:10.1001/archpedi.1985.02140070083042. ISSN 0002-922X. PMID 3984978.
- ^ "OMIM Entry - 207731 - APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA". omim.org. Retrieved 2022-06-12.
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