-
light or dark,
depending on the
position and
extent of the
coloboma (or
colobomata if more than one is present).
Visual effects may be mild to more severe...
-
congenital heart defects. Less
common characteristics include hypospadias,
colobomata of the iris,
renal anomalies, and deafness.
Antibody deficiencies are...
-
Preaxial deficiency postaxial polydactyly hypospadia Preaxial polydactyly colobomata mental ****ation
Precocious epileptic encephalopathy Precocious myoclonic...
- Abruzzo–Erickson
syndrome is an
extremely rare
disorder characterized by deafness,
protruding ears, coloboma, a
cleft palate or
palatal rugosity, radial...
-
present with
severe symptoms such as
intellectual disability,
ocular colobomata, microcephaly, and seizures. Ginsburg, David; Gelehrter,
Thomas D.; Collins...
-
Syndromic microphthalmia is a
class of rare
congenital anomalies characterized by
microphthalmia along with
other non-ocular malformations.
Syndromic microphthalmia...
-
chorioretinal Cleft palate Cleft palate cardiac defect ectrodactyly Cleft palate colobomata radial synostosis deafness Cleft palate heart disease polydactyly absent...
-
presented with the
symptoms of
congenital hepatic fibrosis,
choroidal colobomata,
dysmorphic features,
polycystic kidneys,
encephalopathy causing intellectual...
- who
presented with a "hitherto
undescribed ****ociation of microcornea,
colobomata of the iris and choroidea, nystagmus,
severe early hearing loss, and patchy...
-
congenital ptosis, excessively-arched eyebrows, hypertelorism,
ocular colobomata, lissencephaly,
short stature,
seizures and
hearing loss. Differential...
