Table 1

Summary of clinical features

Wilson et al4Power
et al9		This study
123451
V.10		2
V.3		3
V.7		4
V.19		5
IV.6		6
IV.17		7
V.20		8
V.21
Age at examination (y)121214201518918173341371439
GenderFMFFFFFFMFMMFF
Developmental delay (1)++++++++++++++++++++++++++++++++++++
Height <3rd centile+5010+++2510+5+50+
Weight (centile)2597<50<25<3>9790509090>90
Stocky build++++-+++++
Behaviour (2)A, MA, M, HHA, HA, HM
Seizures++-++-+--
OFC (centile)<3<505025103050<330<3<3
Frontal narrowing+---+-(-)-
Hair (3)S, W, AFFW, FAT
Face (4)RRRRRR, AsRR(+), AsR, AsR
Prominent forehead+++------
Strabismus++++++++
Deeply set eyes++-++++++
Narrow palpebral fissures++++++++
Eyebrows (5)SSP (med)PSPAP (lat)
Nose (6)(B)BBB, SSB, SB, SB, S
Prominent columella+++-+++(+)-+
Chin (7)MiMaMaMaMaMaMa
Prominent upper lip+--+-+--
Thin upper vermilion border++-++-++
Ears (8)PPP(L)L, PPLL, PLL
Fleshy earlobes++++++(-)+++
Eczema++++++--
PhotosensitivityEye (+)Eye (+)++--
Brachymetaphalangism++++++++++++++
Contractures+++
Scoliosis+++++++
Feet (9)S, BSS(B)SS, BB
Proximally placed thumbs+---Right
Hypoplastic ulnaLeft+++(+)(+)
Menses (10)AiAr
Hernia (11)IUH
Other(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)

  • + definitely positive,− definitely negative, (+) probably positive, (–) probably negative

  • (1) +, mild; ++, moderate; +++, severe

  • (2) A, aggressive; M, self-mutilation; H, hyperkinetic

  • (3) S, sparse; F, fine; W, white; A, alopecia areata; AT, alopecia totalis

  • (4) R, round; As, asymmetrical

  • (5) P, prominent; S, sparse; A, absent; med, medial; lat, lateral

  • (6) B, bulbous; S, short

  • (7) Ma, macrognathia; Mi, micrognathia

  • (8) L, large; P, prominent

  • (9) S, small; B, broad

  • (10) A, secundary amenorrhoea; i, irregular; r, regular

  • (11) U, umbilical; I, inguinal; H, hiatus hernia

  • (12) Craniosynostosis

  • (13) Slow growing hair, ptosis, upward slanting palpebral fissures, bilateral coxa valga

  • (14) Keratoconus, beaked nose, growth hormone deficiency

  • (15) Flat midface, myopia, bilateral hip dislocation, dislocated radial heads, bowing of radius and ulna, joint laxity, mild epiphyseal dysplasia

  • (16) Hypotonia in neonatal period, feeding difficulties

  • (17) Short philtrum, thick neck

  • (18) Mild pectus excavatum, bilateral hallux valgus, lumbar lordosis, shortening of the right leg

  • (19) Rotating nystagmus, low nasal bridge, ileus, diplegia, flat feet

  • (20) Neonatal feeding difficulties, upward slanting palpebral fissures, protruding maxilla, small mouth, small, thick tongue, hypothyroidism

  • (21) Psychiatric disorder, exanthema affecting the skin of his arms, legs, and trunk; bilateral cubitus valgus, genu valgum, pes planus and valgus, dystrophic nails of the halluces, ileus

  • (22) Pale fundus, hearing loss, prominent ribs secondary to scoliosis, recurrent urinary tract infections

  • (23) Poor speech, upward slanting palpebral fissures, bilateral cubitus valgus