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Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Total: 8

(per page)

PMID (PMCID)
21477313 (3083330)	MIXED_SAMPLE	Infant
	Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.
	Abdel Ghaffar TY, Elsobky ES, Elsayed SM. Orphanet J Rare Dis. 2011;6:13.
	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and sensorineural hearing loss.
18637129 (2605190)	MALE
	Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
	Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH. Exp Dermatol. 2009;18(1):64-8.
	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent.
11443545	MIXED_SAMPLE	Infant, Newborn
	Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
	Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG. Am J Hum Genet. 2001;69(2):291-300.
	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.
10739753	MIXED_SAMPLE	Child
	Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
	Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC. Am J Hum Genet. 2000;66(4):1221-8.
	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and sensorineural hearing loss.
9457750	MIXED_SAMPLE	Child
	Cataract in early onset and classic Cockayne syndrome.
	Ferreira RC, Roeder ER, Bateman JB. Ophthalmic Genet. 1997;18(4):193-7.
	To describe cataracts in classic and early onset Cockayne syndrome (CS).
9457750	MIXED_SAMPLE	Child
	Cataract in early onset and classic Cockayne syndrome.
	Ferreira RC, Roeder ER, Bateman JB. Ophthalmic Genet. 1997;18(4):193-7.
	Cataract in early onset and classic Cockayne syndrome.
7810287	FEMALE
	Cockayne syndrome: a case report.
	O'Brien FC, Ginsberg B. AANA J. 1994;62(4):346-8.
	A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia.
4031953	MIXED_SAMPLE	Child
	Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings.
	Leech RW, Brumback RA, Miller RH, Otsuka F, Tarone RE, Robbins JH. J Neuropathol Exp Neurol. 1985;44(5):507-19.
	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia.