| Brachial amelia, cleft lip, and holoprosencephaly | |
|---|---|
| Specialty | Medical genetics |
| Prevention | none |
| Prognosis | varies |
| Frequency | very rare, only 5 cases have been reported in medical literature |
Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome,[1] is a very rare multi-systemic genetic disorder which is characterized by brachial amelia (mainly that affecting the upper limbs) cleft lip, and forebrain defects such as holoprosencephaly.[2][3] Approximately five cases of this disorder have been described in medical literature.[4]
'Other signs include hydrocephalus and an iris coloboma.[1] It was first described by Yim and Ebbin in 1982,[5] and later by Thomas and Donnai in 1994.[6] In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome.[7] In 2000, a similar case was reported by Pierri et al.[8]
References
- ^ a b "MeSH Supplementary Concept Data". MeSH. Retrieved 2011-11-05.
- ^ "Brachial amelia, cleft lip, and holoprosencephaly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-26.
- ^ "Amelia cleft lip palate hydrocephalus iris coloboma (Concept Id: C1832434) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-26.
- ^ "OMIM Entry – % 601357 - BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH". omim.org. Retrieved 2022-05-26.
- ^ A. J., D. K. C.; Ebbin (1982). "Bilateral brachial amelia with cleft lip and palate and hydrocephaly: case report 82". Syndrome Identification. 8: 3–5.
- ^ Thomas, M.; Donnai, D. (1994). "Bilateral brachial amelia with facial clefts and holoprosencephaly". Clinical Dysmorphology. 3 (3): 266–269. doi:10.1097/00019605-199407000-00015. PMID 7981864.
- ^ Froster, U. G.; Briner, J.; Zimmerman, R.; Huch, R.; Huch, A. (1996). "Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus". Clinical Dysmorphology. 5 (2): 171–174. doi:10.1097/00019605-199604000-00010. PMID 8723568. S2CID 38230173.
- ^ Pierri, N. B.; Lecora, M.; Passariello, A.; Scala, I.; Andria, G. (2000). "New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia". American Journal of Medical Genetics. 91 (2): 123–125. doi:10.1002/(SICI)1096-8628(20000313)91:2<123::AID-AJMG8>3.0.CO;2-N. PMID 10748410.
External links
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This page was last edited on 27 October 2023, at 23:03