Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.
We report on a 7-month-old boy with Micro syndrome who was referred for assessment of mental-motor retardation and reduced vision with cataract. The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome. Till date, no renal malformations have been reported in Micro syndrome. Our patient had fusion of the lower poles of the kidneys and his left kidney was ectopic. Ocular findings are the most reliable neonatal diagnostic signs of Micro syndrome. Minör anomalies in Micro syndrome may be subtle and therefore not of significant diagnostic value. Micro syndrome is an autosomal recessive trait. Till date, most reported cases have been in individuals of Muslim origin. In countries with high rates of consanguineous marriage, such as Turkey, it is important that physicians be able to recognize this syndrome. Micro syndrome should be considered in any infant with congenital cataract.
Derbent
Murat
M
Department of Pediatrics, Clinical Genetics Unit, Baskent University Faculty of Medicine, Ankara, Turkey. muratder@superonline.com
Agras
Pinar Isik
PI
Gedik
Sansal
S
Oto
Sibel
S
Alehan
Füsun
F
Saatçi
Umit
U
D061085:Agenesis of Corpus Callosum; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome