Table 1

Clinical data of Myhre syndrome patients

Myhre et ai1Soljak et al2Garcia-Cruz et al3Whiteford et al4Titomanlio et al5This report
Patient 1Patient 2Patient 1Patient 1Patient 2Patient 1Patient 1Patient 1Patient 2Patient 3Patient 4Total or mean*
ASD: atrial septal defect. PPS: peripheral pulmonary stenoses. PDA: patent ductus arteriosus. ?: not determined.
Paternal age at birth373842322332334028384335*
SexMMMMMMMMMMM11 M
General
Birth weight (g)2100290032002200210028702110210021302.3502.5002.4*
Birth height???????44.542444744.4*
Height in SD−5.5−4.5−4.5−6−3<−2−4−2−3.6−2−2−2/–6
    (adult height)(140 cm)(146 cm)(146 cm)(139 cm)(154 cm)
Age at last observation2418161861314201451014.3*
Craniofacial features
OFC (SD)−1−1.5?−1.5M+1.5+1−1+0.5−10−1/+1.5
Ptosis?????++slight3/6
Short palpebral fissures+++++++++++11/11
Midface hypoplasia+++++?++++9/10
Short philtrum+++++++++++11/11
Narrow mouth+++++++++++11/11
Thin upper lip+++++++++++11/11
Prognathism+++?+?+++++9/9
Cleft lip+1/11
Small ears????+??++++5/5
Skeletal anomalies
Brachydactyly+++++++++++11/11
Thick calvaria++++++++?+9/11
Joint limitations+++++++++++11/11
Broad ribs++++++?+?+8/9
Narrow pelvis+++++++++?+10/10
Thick femoral necks+++???+4/8
Large epiphyses???????++?+3/3
Mild platyspondyly+++++?+ (regress)+++9/10
Large pedicles+++??+++++8/9
Neuromuscular
IQ4535–5075LowLowLowLowNormalLow50–6055–60
Behaviour,?,???autisticDifficult relationships?Repetitive/ stereotypic behavior, HyperactivityHyperactivity encopresis
Muscular hypertrophy+++++++++++11/11
Muscle histology??NormalMinor changes?NormalMinor changesNormal???
EMG/muscle ultrasound??EMG myopathicNormal?Myopathic US changesEMG neurogenicEMGnNormal???
Miscellaneous
Very thick skin??++??+++++7/7
Deafness+++−100dB+Mild+++9/11
Abnormal inner ear?????Ossicular fixation?+???
Ophthalmological anomaliesHypermHypermHyperm??Cataract?HypermHypermHypermCataract8/8
Heart malformation+ASDPDA, PPSLeft atrium mild dilatationAortic and pulmonar valve stenosis5/11
Kidney malformationRight kidney agenesia1/11
Hypertension+++?+4/10
Inguinal hernia++2/11
Puberty??NormalDelayed???DelayedPrecociousPrecocious
Hypospadias+1/11
Cryptorchidism++?+++5/10