[MIM 613 792]

(distal 3p deletion)

Unknown prevalence. Deletion of the distal part of 3p (3pter-p25). Autosomal dominant transmission. The phenotypic expression depends on the number of genes lost in the chromosomal deletion.

Association of:

-        microcephaly and trigonocephaly

-        developmental and growth retardation

-        ptosis, telecanthus

-        micrognathia, cleft palate

-        heart defect: most often atrioventricular canal

-        hypoplasia of the genital organs, kidney abnormalities

-  sacral dimple

-        digestive malformations

-        post-axial polydactyly

Anesthetic implications: 

heart and kidney echography, risk of difficult intubation/mask ventilation ; management of a polyhandicapped child

References : 

Updated: October 2016