PedAM
Pediatric Disease Annotations & Medicines
| Disease | microphthalmia |
| Phenotype | C0020255|hydrocephalus |
| Sentences | 2 |
| PubMedID- 21340693 | (2008)2,700-kb deletion (+ 17 genes)congenital glaucoma, sclerocorneabilateral postaxial polydactyly (feet)global delay; decreased brain white matter, lateral ventricular dilatationmicrognathiaweight <3rd centilenonede novo deletionintragenic mutations patient 3, this studyc.592c>t (p.r198x)anophthalmia; microphthalmia with sclerocorneawnldevelopment normal; hydrocephalus, diffuse cerebral atrophyfacial asymmetry, macrocephaly, large anterior fontanelleheight >97th centileright sided diaphragmatic hernia, laryngomalacia, inguinal herniade novo mutation patient 4, this studyc.171dupc (p.e58rx17)anophthalmiawnldevelopment normal; normal brain structuressmall earsheight <3rd centilesmall renal cyst (left)affected half-sister (patient 5) and unaffected mother carry the mutation patient 5, this studyc.171dupc (p.e58rx17); c.362a>g (p.h121r) in transanophthalmia (left), blepharophimosisbilateral postaxial polydactyly (hands)development normal; normal brain structurestelecanthus, relative macrocephaly (75th centile), frontal bossingheight and weight <3rd centilenoneabove; father not available bakrania et al. |
| PubMedID- 23984120 | Few ultrasound features like hydrocephalus, agenesis of corpus callosum, microphthalmia and cleft lip/palate, and other structural anomalies in a growth-retarded fetus can point towards a probable diagnosis of fetal peters' plus syndrome [5, 6], especially in the presence of a positive family history. |
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