Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2.
In this report we present the long-term follow-up findings in a young female born to consanguineous parents with the unique association of (1) a progeroid syndrome, (2) facial dysmorphism with relative microcephaly, triangular face, retrognathism and skin erythema, (3) bilateral posterior cataracts, (4) basal ganglia calcifications and (5) atrium septum defect type 2. Intelligence is borderline. Clinical evolution after normal puberty was positive with regression of the facial erythematous changes. Over the years differential diagnosis included progeria, hypohidrotic ectodermal dysplasia, Rothmund-Thompson syndrome, Cockayne syndrome, Bloom syndrome, but the clinical spectrum of abnormalities and the evolution with age were not compatible with one of these diagnoses. Parental consanguinity is in favour of autosomal recessive inheritance.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Dumoulin
M
M
Hens
G
G
D000015:Abnormalities, Multiple; D001480:Basal Ganglia Diseases / Q000151:congenital*; D002386:Cataract / Q000151:congenital*; D003241:Consanguinity; D005260:Female; D006344:Heart Septal Defects, Atrial; D006801:Humans; D007231:Infant, Newborn; D011371:Progeria; D013577:Syndrome