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Table 1 Clinical, radiological and molecular findings in seven patients with Larsen syndrome

From: Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Clinical features Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6 Patient 7
Gender Male Male Female Male Male Female Male
Ethnicity Indian Indian Indian Indian German German German
Age at last follow-up 10 y 3 y 9 y 6 y 42 y 39 y 4 y
Prenatal growth deficiency + +
Birth weight 3.25 kg 2.5 kg 3.25 kg 2.2 kg 3.58 kg ND 3.88 kg
Birth height ND ND ND ND 52 cm ND 51 cm
OFC at birth ND ND ND ND 37 cm ND 37 cm
Clinical phenotype
 Intellectual disability
 Prominent forehead + + + + + +
 Midface hypoplasia + + + + +
 Hearing loss
 Telecanthus + + + + + + +
 Depressed nasal bridge + + + + + + +
 Cleft palate + +
 Teeth anomaly
 Broad fingertips + + + + + +
 Short nails
 Airway abnormality
 Cardiac defect
 Cryptorchidism NA NA
 Spinal cord compression
Skeletal phenotype
 Short stature + +
 Joint laxity + + + + + + +
 Cylindrical fingers + + + + + +
 Pectus deformity
 Scoliosis + cervical scoliosis +
 Abnormal thumbs/halluces (broad/bifid/spatulate) + + + + + +
 Club foot + + + + + + +
 Hip dislocation + + + +
 Knee dislocation + + + + + + +
 Elbow dislocation + + + + + +
Radiographic findings
 Cervical vertebral dislocation + + cervical instability +
 Cervical scoliosis/kyphosis + + + + +
 Wedge/block vertebrae +
 Supernumerary carpal bones + + + n/a n/a
 Delayed bone age + + n/a n/a
 Supernumerary tarsal bones + + n/a n/a n/a
Molecular findings
FLNB sequence change (according to mRNA RefSeq NM_001164317.1 from GenBank) c.4927G > A c.5164G > A c.4876G > T c.4664G > A c.2055G > C r.2055delgins28 c.5021C > T c.5021C > T
de novo + + absent in mother + + n/a inherited
 Amino acid change (according to protein RefSeq NP_001157789.1 from GenBank) p.(Gly1643Ser) p.(Gly1722Ser) p.(Gly1626Trp) p.(Gly1555Asp) p.Gln685delins10 p.(Ala1674Val) p.(Ala1674Val)
 Amino acid change (according to protein RefSeq NP_001448.2 from GenBank) [24] p.(Gly1612Ser) p.(Gly1691Ser) p.(Gly1595Trp) p.(Gly1524Asp) p.Gln685delins10 p.(Ala1643Val) p.(Ala1643Val)
 Protein domain Ig repeat 15 Ig repeat 15 Ig repeat 15 Ig repeat 14 Ig repeat 5 Ig repeat 15 Ig repeat 15
 Novel/reported Novel Reported [15] Novel Novel Novel Novel Novel
  1. Legends: + present, − absent, Ig immunoglobulin-like, NA Not applicable, n/a not analysed, ND no data, y years. Description of the mutations on protein level is given between brackets when RNA nor protein has been analysed. An “r.” is used to indicate that the change is described at RNA level