Clinical features of patients with Chitayat-Hall syndrome
| Patient | 1-I | 2-I | 2-II | 3-I | 3-II | 4-I | Literature* (affected (n)/with information available (n)) |
| Variant | Partial deletion/inversion | c.1762 C>T (p.Gln588Ter) | c.1762 C>T (p.Gln588Ter) | c.2179_2180del (p.Asp727Profs*6) | c.2179_2180del (p.Asp727Profs*6) | c.1996dupC (p.Gln666Profs*47) | |
| Age at last assessment (years) | 35 | 13 | 11 | 10 | 8 | 6 | |
| Short stature | + | + | + | + | + | + | 14/22 |
| Increased subcutaneous fat | Noted in infancy, current BMI 19.4 | NR | NR | + | + | + | 9/20 |
| Developmental delay/intellectual disability | + (moderate) | + | + | + (severe) | + (severe) | + (severe) | 22/22 |
| Eye abnormalities | − | + (nystagmus, microcornea, glaucoma) | + (nystagmus, microcornea) | − | − | + (myopia, hyperopia, exotropia) | 16/20† |
| Dysmorphisms | + | + | + | + | + | + | 25/30 |
| Heart defect | − | + (patent foramen ovale) | − | +(atrial septal defect) | − | − | NR |
| Feeding problems | + | − | − | + | + | + | 22/24 |
| Gastro-oesophageal reflux | + | − | − | + | + | + | 8/14 |
| Contractures | + | + | + | + | + | + | 25/30 |
| Scoliosis/kyphosis | + | + | + | + | + | + | 9/19 |
| Hypoglycaemic episodes | − | + | + | + | + | + | 3/3‡ |
| Growth hormone deficiency | + | + | + | + | + | + | 1/1§ |
| Hypothyroidism | + | − | − | − | − | − | NR |
| Hypotonia | + | + | + | + | + | + | 15/15 |
| MRI abnormalities | MRI not performed | Early myelination delay, hypothalamic hypoplasia | Hypersignal of pituitary stalk | Frontal volume loss and decreased pituitary size | MRI not performed | Thin pituitary stalk, dilatation of third ventricle possibly due to hypothalamic atrophy, ventriculomegaly | |
| Previous normal genetic testing | Karyotype, array genomic hybridisation | Karyotype, fragile X, | Array genomic hybridisation, fragile X | Karyotype, array genomic hybridisation | Array genomic hybridisation | Karyotype, array genomic hybridisation |
NR indicates that this information was not reported.
*Refs 4–6, 10–12.
†Esotropia, myopia and strabismus.
‡Hyperinsulinaemic hypoglycaemia10 and recurrent hypoglycaemia of unknown origin.11
§Ref 4.
BMI, body mass index.