Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn).
The ocular findings in a newborn with Peters' anomaly and opacity of the lens led to a search for a chromosomal deletion syndrome, confirmed by DNA autoradiography as a partial monosomy 4, Wolf-Hirschhorn syndrome. The child was followed for 13 months. Multiple physical anomalies were observed including incomplete nasal cleft, cerebellar malformations, congenital heart defects, renal malformations, inguinal hernia, malformations of thumbs and toes. Broad beaked nose, broadened nasal root, epicanthus, defect of the medial half of the eyebrows, right-sided facial hypoplasia were the periocular findings. Bilateral microphthalmos, Peters' anomaly with cataracts, and posterior chambers without evident pathology, were found. If the physical development stays satisfactory, anterior segment reconstructive procedures including lensectomy and corneal grafting may prove successful.
Mayer
U M
UM
University Eye Hospital, Erlangen/West Germany.
Bialasiewicz
A A
AA
D000867:Anterior Chamber / Q000002:abnormalities*; D001345:Autoradiography; D002386:Cataract / Q000151:congenital / Q000473:pathology; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000032:analysis; D009877:Endophthalmitis / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D008297:Male; D013577:Syndrome
D004247:DNA