Yim–Ebbin syndrome

Yim–Ebbin syndrome
Classification and external resources
ICD-10 none
ICD-9-CM none
OMIM 601357
MeSH C536713

Yim–Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma.[1] It was first described by Yim and Ebbin in 1982,[2] and later by Thomas and Donnai in 1994.[3] In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome.[4] In 2000, a similar case was reported by Pierri et al.[5]

It is also known as "amelia cleft lip palate hydrocephalus iris coloboma".[1]

References

  1. 1 2 "MeSH Supplementary Concept Data". MeSH. Retrieved 2011-11-05.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.


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