[MIM 261 540]

Very rare (< 1/106). Autosomal recessive transmission of mutations in the  B3GALTL gene (13q12.3).

Association of

-  congenital glaucoma (known as Peters glaucoma) due to trabeculodysgenesis causing opacification of the central cornea and irido-corneal adhesions; sometimes associated with cataracts

-        rhizomelic dwarfism (short limbs) with intellectual deficit (80 %)

-        ear anomalies: small ears, preauricular appendices, hypoacousia or deafness

-        cleft lip (45 %) or palate (33 %)

-        growth retardation

Sometimes,

-        facial dysmorphism: hypertelorism, long philtrum, broad prominent forehead, narrow palpebral fissures, micrognathia, narrow  vermilion border and Cupid-bow shaped upper lip

-        genitourinary abnormalities: hypospadias, single kidney, cystic dysplasia

-        cardiac malformation (30 %): ASD, VSD, patent ductus arteriosus, Wolff-Parkinson-White, dilated cardiomyopathy, pulmonary stenosis.

Anesthetic implications:

micrognathia, glaucoma, visual impairment, mental retardation, short stature; preoperative echocardiography

References : 

-        Maillette de Buy Wenniger-Prick LJ, Hennekam RC. 
The Peters' plus syndrome: a review. 
Ann Genet. 2002 ; 45 :97-103. 

-        Salik I, Gupta A, Tara A, Zaidman G, Barst S.
Peter’s anomaly : a 5-yeazr experience.
Pediatr Anesth 2020 ; 30 :577-83

Updated: June 2020