Table 1 Clinical data of parents with somatogonadal/germline and somatic mosaicism in FBN1 and their affected children.

From: Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

Family

Patient

Agea (years)

Cardiovascular

Ocular

Systemic features

Systemic score

MF0014

M0018

28

TAAD (surgery)

–

Scoliosis, PD, AraD, PP, CFDb

8

M0078

55

–

–

Dolichostenomelia

1

MF0050

M0083

Birth

TAAD (+6 SD), severe MI, tricuspid valve prolapse

Myopia (high)

Scoliosis, PD, PP, AraD, joint laxity, distal arthrogryposis, CFDb

9

M0279

In utero

ND

ND

AraD, arthrogryposis

ND

M0277

38

TAAD (+2, 5 SD), BAV

ND

AraD

ND

MF0140

M0235

37

ND

ND

ND

ND

M0336

65

–

Myopia (mild), LE: amblyopia, peripapillary atrophy

Scoliosis, AraD, skin striae

5

  1. Normal examination, AraD arachnodactyly, BAV bicuspid aortic valve, CFD craniofacial dysmorphy, LE left eye, MI mitral insufficiency, ND not determined, PP pes planus, PD pectus deformity, TAAD thoracic aortic aneurysm or dissection.
  2. aAge at diagnosis.
  3. bSystemic score and craniofacial dysmorphy as evaluated in the revised Ghent nosology for the Marfan syndrome (Loeys et al. [1]).
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