Table 1.
Summary of clinical features and molecular findings of all reported cases with Desmosterolosis.
| Patient 1 | Patient 2 | Patient 3–6 | Patient 7 | Patient 8 and 9 | Present patient | Frequency n = 10 |
|
|---|---|---|---|---|---|---|---|
| Molecular diagnosis | p.[Y471S] + [N294T; K306N] | p.[E191K] + [E191K] | p.[R103C] + [R103C] | p.[R94H] + [E480K] | p.[E191K] + [E191K] | p.[E191K] + [E191K] | |
| Sex | Female | Male | 2 Female, 2 Male |
Female | Female | Male | |
| Ancestry | European | European | Israeli Bedouin | N/A | Middle Eastern | Middle Eastern | |
| Failure to thrive | N/A | + | + | + | + | + | 9/9 |
| Head circumference | Macrocephaly | Microcephaly | Microcephaly | Relative Macrocephaly | Low normal/Relative Macrocephaly | Relative Macrocephaly | |
| Facial anomalies | |||||||
| Frontal bossing/Prominent forehead | Frontal bossing | − | − | Prominent forehead | − | Frontal bossing | 3/10 |
| Dolichocephaly/bitemporal narrowing | − | − | − | − | + | − | 2/10 |
| Down-slanting palpebral fissures/Epicanthal folds/Telecanthus | − | Down-slanting PF/Epicanthal folds | − | Telecanthus | Down-slanting PF | Down-slanting PF | 5/10 |
| Micrognathia/Microretrognathia | + | + | + | + | 1/2 | + | 9/10 |
| Cleft palate | + | + | − | − | 1/2 | + | 4/10 |
| Abnormal nose | + | − | − | + | + | + | 5/10 |
| Low set/abnormal ears | + | − | − | − | 1/2 | + | 3/10 |
| Neurological anomalies | |||||||
| ID/DD | N/A | + | + | + | + | + | 9/9 |
| Agenesis of corpus callosum (full/partial) | + | + | + | + | + | + | 10/10 |
| Ventriculomegaly | + | − | + | + | + | + | 9/10 |
| Thinning of white matter | N/A | + | + | + | + | − | 8/9 |
| Seizure | N/A | − | 3/4 | N/A | + | − | 5/8 |
| Ophthalmological anomalies | |||||||
| Nystagmus/Strabismus | N/A | − | 3/4 | − | + | + | 6/9 |
| Skeletal anomalies | |||||||
| Short stature | − | + | N/A | N/A | + | + | 4/5 |
| Short/wide neck | − | − | − | − | 1/2 | + | 2/10 |
| Shortening of the limbs | + | − | N/A | + | − | − | 2/6 |
| Short wide ribs | + | − | N/A | − | − | − | 1/6 |
| Pectus deformity | − | − | − | − | − | + | 1/10 |
| Bone mineralization | Osteosclerosis | Normal | N/A | Mild heterogeneity in long bones | 1/2 (Osteopenia) | Normal | |
| Large joints contractures | + | Talipes | N/A | + | 1/2 (Talipes) | Talipes | 5/6 |
| Distal arthrogryposis | − | + | + | + | + | + | 9/10 |
| Spasticity | N/A | + | + | N/A | + | + | 8/8 |
| Syndactyly 2–4 toe | − | − | − | + | − | − | 1/10 |
| Congenital heart disease | TAPVR | PDA | − | − | − | − | 2/10 |
| Urogenital anomalies | Prominent clitoris; Renal hypoplasia | − | − | − | − | Cryptorchidism | 2/10 |
| Other features | Neonatal demise | Cutis aplasia | Diaphragmatic eventration; Congenital hydrocephalus | 2/2 radial head dislocations; 1/2 SNHL; 1/2 Parietal foramina; 1/2 deformed pelvis; 1/2 Sacral cyst |
Abbreviations: N/A = not available, ID = intellectual disability, DD = developmental delay, PF = palpebral fissure, TAPVR = total anomalous pulmonary venous return, PDA = patent ductus arteriosus, SNHL = Sensorineural Hearing Loss. References: Patient 1: FitzPatrick et al., 1998, Patient 2: Andersson et al., 2002, Patients 3–6: Zolotushko et al., 2011, Patient 7: Schaaf et al., 2011, Patient 8–9: Dias et al., 2014.