Cross syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords:Cross–McKusick–Breen syndrome, Oculocerebral-hypopigmentation syndrome, Hypopigmentation and microphthalmia, Kramer syndrome

Overview

Cross–McKusick–Breen syndrome is an extremely rare disorder characterized by skin, hair, eye and cerebral abnormalities.

Historical Perspective

It was characterized in 1967.^[1] It is named for Harold Cross.^[2]^[1]

Pathophysiology

Cross syndrome is assumed to be autosomal recessive in transmission. Molecular cytogenetics reveal de novo interstitial deletion of (3)(q27.1q29) of the paternal chromosome.^[3]^[4]

Diagnosis

Symptoms

Jerky nystagmus
Vision disturbances
Involuntary muscle contractions
Recurrent infections

Physical Examination

Skin

White skin (albanism)
Blond hair with yellow-gray metallic sheen

HEENT

Microcephaly
Small eyes with cloudy corneas
Gingival fibromatosis

Neurologic

Mental retardation – decreased intellectual capacity
Jerky nystagmus

External links

http://www.whonamedit.com/synd.cfm/1387.html

References

↑ ^1.0 ^1.1 Cross HE, McKusick VA, Breen W (1967). “A new oculocerebral syndrome with hypopigmentation”. J. Pediatr. 70 (3): 398–406. doi:10.1016/S0022-3476(67)80137-9. PMID 4959856. Unknown parameter |month= ignored (help)
↑ Template:WhoNamedIt
↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
↑ Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP (2011). “Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29”. Dermatology (Basel). 223 (4): 306–10. doi:10.1159/000335609. PMID 22327602.

Template:WS

[pmid4959856-1] 1.0 ^1.1 Cross HE, McKusick VA, Breen W (1967). “A new oculocerebral syndrome with hypopigmentation”. J. Pediatr. 70 (3): 398–406. doi:10.1016/S0022-3476(67)80137-9. PMID 4959856. Unknown parameter |month= ignored (help)

[2] Template:WhoNamedIt

[Andrews-3] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[pmid22327602-4] Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP (2011). “Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29”. Dermatology (Basel). 223 (4): 306–10. doi:10.1159/000335609. PMID 22327602.

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