Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?
Manifestations of Peters'-Plus syndrome include Peters' anomaly, short stature, small hands, mental retardation, abnormal ears and cleft lip and palate. 'Kivlin' syndrome is a similar disorder involving Peters' anomaly, short stature, short limbs, delayed development, facial clefting in some, ear abnormalities and a characteristic facial appearance attributable mainly to a 'cupid's bow' shape of the upper lip. Two new adult cases of Peters'-Plus are described, and follow-up information on a previously reported case of 'Kivlin' syndrome is presented. The two syndromes are reviewed and it is concluded that they are the same autosomal recessively inherited disorder, which we suggest should be called Peters'-Plus syndrome.
Thompson
E M
EM
Kennedy-Galton Centre, Northwick Park Hospital, Harrow, Middlesex, UK.
Winter
R M
RM
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002658:Developmental Disabilities; D004392:Dwarfism; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D005836:Genitalia, Female / Q000002:abnormalities; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D013577:Syndrome