Medicine:Brachial amelia, cleft lip, and holoprosencephaly

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Brachial amelia, cleft lip, and holoprosencephaly
SpecialtyMedical genetics
Preventionnone
Prognosisvaries
Frequencyvery 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

  1. ↑ 1.0 1.1 "MeSH Supplementary Concept Data". MeSH. https://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?mode=&index=212409&field=all&HM=&II=&PA=&form=&input=. 
  2. ↑ "Brachial amelia, cleft lip, and holoprosencephaly - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/641/brachial-amelia-cleft-lip-and-holoprosencephaly. 
  3. ↑ "Amelia cleft lip palate hydrocephalus iris coloboma (Concept Id: C1832434) - MedGen - NCBI". https://www.ncbi.nlm.nih.gov/medgen/321957. 
  4. ↑ "OMIM Entry – % 601357 - BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH" (in en-us). https://omim.org/entry/601357#3. 
  5. ↑ 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. 
  6. ↑ 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. 
  7. ↑ 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. 
  8. ↑ 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

Classification




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