Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome

American Journal of Medical Genetics. Part a
Murat DerbentUmit Saatçi

Abstract

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 import...Continue Reading

References

Jun 1, 1988·European Journal of Pediatrics·R C HennekamJ B Bijlsma
Jul 1, 1997·Journal of Medical Genetics·F F OzkinayO Aksu
Oct 26, 1999·Clinical Dysmorphology·G Rodríguez CriadoI Gómez de Terreros
Mar 10, 2001·Ophthalmology·J R AinsworthJ Chhina

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Citations

Oct 23, 2010·Human Genetics·Guntram BorckChristian Kubisch
Mar 5, 2013·American Journal of Human Genetics·Naiara AkizuJoseph G Gleeson
Sep 11, 2016·Cell Reports·Jonathan J MinerRajendra S Apte
Mar 14, 2007·Clinical Dysmorphology·Adnan YükselMehmet Seven
Mar 18, 2021·Ultraschall in der Medizin : Organ der Deutschen Gesellschaft für Ultraschall in der Medizin, [der] Österreichischen Gesellschaft für Ultraschall in der Medizin, [der] Schweizerischen Gesellschaft für Ultraschall in Medizin und Biologie·Yue QinShengli Li
May 6, 2021·American Journal of Medical Genetics. Part a·Hatice Mutlu AlbayrakKadri Karaer

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