Table 3 Clinical characterisation of patients with an abnormal sterol pattern in lymphoblastoid cells.
| Patient | Age at diagnosis | Gender | Mutation | Cerebral malformation | Facial malformation | Additional clinical features | Severity | Reference |
|---|---|---|---|---|---|---|---|---|
| 144 | 1 day | F | Alobar HPE, ACC, arrhinencephaly, Chiari I malformation | Dysplastic ears, wide nasal bridge, high narrow palate | Lumbosacral MMC | Severe | ||
| 329 | 3 months | F | PTC: T728M | Partial ACC | Midline CLP, SCI, hypotelorism, flat midface | Omphalocele, ambiguous genitalia, panhypopituitarism, PDA | Severe | Ming 200227 |
| 331 | 3 days | F | Semilobar HPE, hypoplastic CC, pituitary gland absent | Microcephaly, midline CLP, hypotelorism, up‐slanted palpebral fissures | ASD, PDA, vascular malformation, talipes equinovarus, NEC, anal malformation, epilepsy | Moderate–severe | ||
| 383 | 1 month | F | Semilobar HPE | Microcephaly, Robin sequence, preauricular tag | VSD, ASD, partial syndactyly toes 2,3,4 r | Moderate | ||
| 613 | 2 months | F | DHCR7: T154R/G410S | Semilobar HPE, cebocephaly | Microcephaly, median CLP, hypotelorism, ptosis, single nostril | Partial bilateral syndactyly toes 2+3, polydactyly | Moderate–severe | Kelley 199612 |
| 646 | Adult | F | 46, XX, t(10;13) (p15;q23) | Normal brain | Normal face | Two sons with alobar HPE | Asymptomatic | |
| 719 | 2½ years | F | Lobar HPE, partial ACC, singular ventricle | Microcephaly, hypotelorism, SCI, microphthalmia | DI, infantile spasms, spastic tetraparesis | Mild–moderate | ||
| 811 | Adult | M | Normal brain | Normal face | Son with semilobar HPE | Asymptomatic | ||
| 859 | 1 day | M | 46, XY, r (7); del SHH | Semilobar HPE | Microcephaly, median CLP, hypotelorism, ptosis, single nostril | Micropenis, rugate scrotum, hypoplastic nipples, intractable seizures | Severe | Sawyer 199628 |
| 887 | 7 years | F | Semilobar HPE, partial ACC, hydrocephalus, IH cyst | Mental retardation | Mild–moderate | |||
| 893 | 2½ months | F | dup ZIC2 | Semilobar HPE | Normal face | None | Not known | |
| 1265 | 20 months | F | SIX3: L226V | Normal brain | Microcephaly, hypotelorism, midface hypoplasia, absence of nasal bones, bilateral CLP | None | Mild | Wallis 19995 |
| 6006 | 1 month | F | Alobar HPE, hydrocephalus | Hypotelorism, midface hypoplasia, small nose, submucous CP | Seizures | Moderate | ||
| 6833 | 3 months | M | ZIC2: 552‐568 dup16 | Semilobar HPE | Microbrachycephaly, narrrow palate | DI, muscular hypertonia, severe psychomotor retardation, recurrent aspiration | Moderate–severe | |
| 7304 | F | |||||||
| 7334 | 4 months | F | HPE | Not known | ||||
| 7835 | 9 months | M | HPE | SCI, nasal pyriform aperture stenosis | Mild | |||
| 7858 | 5 months | F | HPE | Not known | ||||
| 7880 | 20 months | F | Semilobar HPE | Mild | ||||
| 8064 | 5 months | F | Semilobar HPE | Mild | ||||
| 8103 | F | |||||||
| 8121 | 4 months | F | Normal brain | Microcephaly, hypotelorism, SCI, low‐set ears, bilateral cataracts | IUGR, oligohydramnios, 2/3 toe syndactyly, hypopituitarism, mental retardation | Mild |
ACC, agenesis of corpus callosum; ASD, atrial septal defect; CC, corpus callosum; CLP, cleft lip palate; CP, cleft palate; DI, diabetes insipidus; HPE, holoprosencephaly; IH, intrahemispheric; IUGR, intrauterine growth retardation; MMC, myelomeningocele; NEC, necrotising enterocolitis; PDA, patent ductus arteriosus; SCI, single central incisor; VSD, ventricular septal defect.