Skip to main content

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)
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