Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Anophthalmia

Absence of the globe or eyeball.


Total: 6

                       


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PMID (PMCID)
18006952
 MALE Child
Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?
Galasso C, Bombardieri R, Cerminara C, Stranci G, Curatolo P.
J Child Neurol. 2007;22(11):1252-5.
Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?
18006952
 MALE Child
Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?
Galasso C, Bombardieri R, Cerminara C, Stranci G, Curatolo P.
J Child Neurol. 2007;22(11):1252-5.
This patient, according to eponymous classification, should fit into the Anophthalmia-Waardenburg syndrome, although he also presents cutaneous and cerebral manifestations never reported in this syndrome until now.
9890185
 MALE
Cranial MR imaging findings in Waardenburg syndrome: anophthalmia, and hypothalamic hamartoma.
Sener RN.
Comput Med Imaging Graph. 1998;22(5):409-11.
Cranial MR imaging examination findings of a three and half year old boy with Waardenburg syndrome are described which consisted of bilateral congenital anophthalmia (secondary type), and a hypothalamic hamartoma.
9890185
 MALE
Cranial MR imaging findings in Waardenburg syndrome: anophthalmia, and hypothalamic hamartoma.
Sener RN.
Comput Med Imaging Graph. 1998;22(5):409-11.
Cranial MR imaging findings in Waardenburg syndrome: anophthalmia, and hypothalamic hamartoma.
8723070
 MIXED_SAMPLE Child
Anophthalmia-Waardenburg syndrome: a report of three cases.
Suyugul Z, Seven M, Hacihanefioglu S, Kartal A, Suyugul N, Cenani A.
Am J Med Genet. 1996;62(4):391-7.
We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome.
8723070
 MIXED_SAMPLE Child
Anophthalmia-Waardenburg syndrome: a report of three cases.
Suyugul Z, Seven M, Hacihanefioglu S, Kartal A, Suyugul N, Cenani A.
Am J Med Genet. 1996;62(4):391-7.
Anophthalmia-Waardenburg syndrome: a report of three cases.