Table 1 Clinical features of the two analyzed patients with SHORT syndrome
From: Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Patient 1 | Patient 2 | |
|---|---|---|
General characteristics | ||
Gender | Male | Male |
Father age at conception | 48-year-old | 33-year-old |
Weight at birth | 1 600 g | 2 030 g |
Height at birth | Not reported | 44.5 cm |
Age at assessment | 2 years 6 months | 6 ½ months |
Height at assessment | 82 cm (<3rd percentile) | 62 cm (<3rd percentile) |
Weight at assessment | 7 700 g (<3rd percentile) | 4 860 g (<3rd percentile) |
Head circumference at assessment | 46 cm (<3rd percentile) | 41.5 cm (4.5th percentile) |
Facies | ||
Progeroid appearance | yes | yes |
Triangular face | yes | yes |
Ocular depression | yes | yes |
Small chin | yes | yes |
Low-set posteriorly rotated ears | no | yes |
Thin alae nasi | yes | yes |
Other SHORT syndrome characteristics | ||
Intrauterine growth retardation | yes | yes |
Rieger anomaly | yes (with Axenfeld syndrome). Glaucoma and severe myopia | no |
Lipodystrophy | yes | yes |
Wrinkled skin | yes (on the hands) | yes (on the hands) |
Hyperextensibility of joints | yes (artrosis evolution: hip and knee) | no |
Inguinal hernia | no | no |
Insulin resistance | yes, with axillary acanthosis nigricans | N/A |
Bone age | normal (osteoporosis evolution) | Normal |
Psychomotor development | Normal | Normal |
Other findings | ||
Pulmonary valve stenosis, pulmonary hypoplasia, hypercholesterolemia | Gastro-esophageal reflux, patent anterior fontanelle, patent foramen ovale | |
PIK3R1 mutation found | c.1929_1933delTGGCA | c.1945C > T |