Table 1

Clinical data for patients 1–4

Age14 y14 y7 m31 y
 History of infertility/assisted reproductionNKNoNoNK
 Placental abnormalityNK‘Poor condition’NoNK
 Birth weight (weeks gestation)2.1 kg (0.4th–2nd) (38/40)1.95 kg (0.4th) (38/40)1.48 kg (0.4th–2nd) (35/40)1.25 kg (<<0.4th) (40/40)
 Height (age)84 cm (<0.4th) (3 y)
163 cm (50th–75th) (14 y)
60 cm (<<0.4th) (7.5 m)
102 cm (2nd–9th) (4 y10 m)
41.2 cm (<<0.4th) (7 wk)
52 cm (<<0.4th) (6 m)
145 cm (<<0.4th) (31 y)
 Relative macrocephaly (age)33.5 cm (25th–50th) (birth)47.5 cm (91st–98th) (7.5 m)36 cm (50th–75th) (7 wk)NK
Congenital abnormalities
 Male genital anomalyCryptorchidism, inguinal herniaNoNANA
 Skeletal abnormalityDelayed bone age at 14 yNoNoNo
Other problems
 Psychomotor/speech delayNoNoNoNo
 Excessive sweatingNoYesNoNo
 HypoglycaemiaNoIn infancyNoNo
 Feeding difficultiesYesYesYesNo
 Gastrointestinal refluxNoYesNoNo
Craniofacial features
 Triangular faceYesYesYesNo
 Frontal bossingYesYesYesNo
 Irregular/crowded teethNKNoNANo
 Small teethNKYesNANo
 Downturned corners of mouthYesYesYesNo
 Thin upper lipYesNoNoNo
 Low set/posteriorly rotated earsYeslow setYesNo
Other clinical signs
 5th finger clinodactylyYesYesYesNo
 Joint contracturesNoNoNoNo
 Café au lait patchesNoNoNoNo
 OtherMultiple haemangiomataAtypical diabetes
Lactation failure
  • m, months; NA, not applicable; NK, not known; wk, weeks; y, years.