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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