Extraocular phenotypes
| Case No | Eye category | Diagnosis | Features |
|---|---|---|---|
| 33 | OFCD | Microphthalmia (bilateral), macrocephaly, round face, tall forehead, medial flaring of eyebrows, Cupid's bow mouth, long philtrum, postaxial polydactyly, palmar pit (right), no falx calcification | |
| 39 | OFCD | Coloboma (bilateral), iris hypoplasia/aniridia, cataracts (bilateral), hypospadias, longish philtrum | |
| 47 | OFCD | Anophthalmia (left), microphthalmia (right), low set ears, doll-like features, cerebral atrophy, hearing loss (bilateral), short stature, macrocephaly | |
| 50 | Unclassifiable | Microphthalmia (left), ear tag, preauricular pit, epicanthus, capillary haemangioma scalp (left), arachnoid cyst, scoliosis, 2/3 syndactyly toes | |
| 53 | Unclassifiable | Microphthalmia (bilateral), inguinal hernia (right), microcephaly, short stature | |
| 58 | OFCD | Microphthalmia (bilateral), microcephaly (postnatal onset), deep set eyes, prominent philtrum, pulmonary valve stenosis (mild) | |
| 62 | OFCD | Aicardi-like | Coloboma (right), microphthalmia (left), smooth philtrum, 4/5 syndactyly hand, sparse hair, broad toes, agenesis of corpus callosum, ptosis, |
| 63 | OFCD | Heminasal aplasia | Microphthalmia (bilateral), nasolacrimal duct, severe nasal hypoplasia, pyloric stenosis, small VSD, small mouth, no intracranial abnormality, asymmetrical vomer, asymmetrical hard palate |
| 67 | Unclassifiable | Heminasal aplasia | Anophthalmia (left), hydrocephalus, bilateral radial aplasia, congenital dislocation of the hip (right), choanal atresia (left), low set ears, posteriorly angulated ears, oligodactyly (bilateral upper limbs), proboscis |
| 75 | OFCD | Coloboma (right), microphthalmia (left), patent ductus arteriosus, prominent columella, pectus excavatum, maxillary hypoplasia, narrowed aortic arch, 46,XY, laterally sparse eyebrows, limited movement of thumbs | |
| 90 | OFCD | Microphthalmia (bilateral), patent ductus arteriosis, low set ear (left), broad nasal root, ptosis (left) | |
| 94 | OFCD | Microphthalmia (bilateral), notched alae nasi, short philtrum, deep set eyes, low set ears, ataxic diplegia, clinodactyly, prominent chin, posteriorly angulated ears, large joint contractures, kyphoscoliosis, sloping shoulders, unusual fat distribution upper chest, microcephaly | |
| 97 | OFCD | Microphthalmia (bilateral), hypotonia, ?ataxic, pharyngoplasty, brachydactyly 4/5 UL, deafness (?type), dysplastic ears, partially virilised | |
| 109 | OFCD | Microphthalmia (bilateral), cryptorchidism, low set ears, posteriorly angulated ears, small mouth | |
| 117 | Unclassifiable | Anophthalmia (left), microphthalmia (right, extreme), microcephaly, pinched nasal alae, deep set eyes | |
| 162 | OFCD | Coloboma (left), cataract (left), calcaneo-navicular bar, VSD (required surgery), facially non-dysmorphic, ?rotation of the optic fissure | |
| 166 | Unclassifiable | Anophthalmia (right), notched alae nasi, smooth philtrum, cleft palate, hypertelorism, 46,XX, broad nasal root, flattened nasal tip, short columella, coarse appearance | |
| 199 | Unclassifiable | Microphthalmia (bilateral), hip subluxation (right), pyloric stenosis, patent ductus arteriosis, bronchopulmonary dysplasia, corneal opacification (bilateral), cataracts (bilateral), mother rubella immune, deep set eyes, prominent chin | |
| 210 | Unclassifiable | Microphthalmia (right), umbilical herniae, inguinal hernia right, skin lumps, IUGR | |
| 213 | Unclassifiable | Heminasal aplasia | Microphthalmia (left), seizure disorder, proboscis (removed), ophthalmic encephalocele (left), coloboma of upper lid (left), notched alae nasae (left), |
| 224 | OFCD | Microphthalmia (right), downward slanting palpebral fissures, prominent ear lobules, small mouth, pectus carinatum, lateral flaring of eyebrows, undecended testes, short stature, failure to thrive, normal cardiac echo, systolic murmur, delayed bone age, widely spaced nipples | |
| 232 | OFCD | Coloboma (left), cleft palate only, inguinal hernia (left), cryptorchidism, small mouth, downward slanting palpebral fissures, zygomatic hypoplasia, undermineralised teeth, 2/3 syndactyly (mild), long palpebral fissures, prominent philtrum, smooth philtrum | |
| 234 | OFCD | Coloboma (bilateral), seizure disorder (absences), broad nasal root (slight), prominent nasal root (slight), posteriorly angulated ears, low set ears | |
| 238 | OFCD | VCFS phenocopy | Coloboma (right), tetralogy of Fallot, nasal speech, upward slanting palpebral fissures, small mouth, high birth weight, learning disability, no arachnodactyly, heterochromia |
| 239 | Unclassifiable | Anophthalmia (left), hydrocephalus (left), cortical malformation (left), prominent premaxilla, low set ear (left), seizure disorder, hemiplegia (right), eye brows flared medially | |
| 242 | OFCD | Coloboma (right), non-dysmorphic, discharging sinus on bridge of nose | |
| 267 | OFCD | Proband from family 3 | Microphthalmia (bilateral), hypospadias, hypoplastic femoral condyles, fixed flexion deformity of knees |
| 275 | Unclassifiable | Very unusual “coloboma” at 2 o'clock (right), epibulbar dermoid | |
| 284 | Non-OFCD | Microphthalmia (bilateral), anterior segment dysgenesis, obese, ptosis (left), non-dysmorphic, large ear lobule, hypoplasia of alae nasae (left, slight) | |
| 299 | Unclassifiable | Microphthalmia (bilateral), cleft lip and palate (bilateral), no renal problems, deep set eyes, pericentric inversion of 9 (inherited) | |
| 324 | OFCD | Coloboma (right), subaortic stenosis, inguinal hernia (left), non-dysmorphic, seizure disorder |