Chromosome 18 Partial Deletion (Short-Arm) Syndrome
(Monosomy 18 Partial [Short-Arm]
Syndrome)& 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; & 848d36i nbsp; 247
General: Deletion of the short arm of chromosome 18 (note similarity of clinical features to those of the cri-du-chat syndrome or B1 deletion syndrome) (see Cri-du-Chat Syndrome).
Ocular: Hypertelorism; epicanthal folds; ptosis; mongolian or antimongolian slant; strabismus; eccentric pupil; cataract; corneal opacities; concentric visual field defects.
Clinical: Short stature; mental retardation; low-set ears; dysphagia; moon face; oliguria; arhinencephaly; microcephaly; congenital alopecia; flat bridge of nose; pyramidal tract signs; weakness and focal dystonia of the lower extremities.
Buhler EM, et al. Partial monosomy 18 and anomaly of thyroxine synthesis. Lancet 1964; 1:170.
Levenson JE, et al. Partial deletion syndromes of chromosome 18. Ann Ophthalmol 1971; 3:756.
Yanoff M, et al. Ocular and cerebral abnormalities in chromosome 18 deletion defect. Am J Ophthalmol 1970; 10:391.
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