Cri-du-Chat Syndrome (Cat-Cry (5p-) Syndrome; Crying
Cat Syndrome; BI Deletion Syndrome;
Lejeune Syndrome)& 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; & 626d38g nbsp; 322
General: Short arm deletion of a no. 5 chromosome (5p-); increased inheritance risk; 13% have one parent with balanced translocation; female preponderance 2:1 (see Wolf Syndrome).
Ocular: Hypertelorism; epicanthal folds; antimongoloid slanting of palpebral fissures; strabismus; increased tortuosity of retinal vessels.
Clinical: High-pitched, plaintive cry by an infant (reminiscent of a crying cat); mental retardation; broad nasal root; micrognathia or retrognathia; low-set ears; simian crease; congenital heart defect; small larynx and epiglottis.
Bateman JB. Chromosomal anomalies and the eye. In: Wright KW; ed. Pediatric Ophthalmology and strabismus. St. Louis: Mosby, 1995:595.
Howard RD. Ocular abnormalities in the cri-du-chat syndrome. Am J Ophthalmol 1972; 73:939.
Lejeune J, et al. Trois cas de Deletion Partielle du Bras Court d'un Chromosome 5. C R Acad Sci (Paris) 3098.
Wilkins LE, et al. Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome. J Pediatr 1983; 102: 528-533.
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