Total: 3 |
|
PMID (PMCID) | ||
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15216542 |
MALE | Infant |
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. | ||
Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U. Am J Med Genet A. 2004;128A(3):232-4. |
||
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. | ||
15216542 |
MALE | Infant |
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. | ||
Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U. Am J Med Genet A. 2004;128A(3):232-4. |
||
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. | ||
10893665 |
MALE | Child |
Lenz microphthalmia syndrome: three additional cases with rare associated anomalies. | ||
Temtamy SA, Ismail SI, Meguid NA. Genet Couns. 2000;11(2):147-52. |
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Here we present three cases of Lenz microphthalmia with additional manifestations: two brothers of first cousin mating, the elder one has bilateral congenital cataract which is a rare ophthalmological finding in this syndrome and a third case who presented to us because of ambiguous genitalia. |