Table 1

Patient’s phenotypic manifestations (adapted from Vis et al9.

DSMFSVis et al 9Presented caseEayrs et al 10Zarate et al 8Kurolap et al 7
Dysmorphic features
Head and neck
 Upslanting palpebral fissure+++
 Epicanthic folds+++
 Flat face/flat nasal bridge++++
 Malar hypoplasia+++
 Low-set small ears++++
 Fissured tongue++
 High-arched palate+++
 Microcephaly+
 Brachycephaly+++
 Short neck++
 Excessive skin at the nape of the neck++++
 Single transverse palmar crease++
 Space between the first and second toe+++
Neurologic
 Intellectual disability+++
 Hypotonia+++++
Gastrointestinal
 Duodenal atresia+
 Hirschsprung disease+
 Coeliac disease+
Endocrine
 Short stature++
 Tall stature++
 Obesity+++
 Hypothyroidism++
Ocular
 Brushfield spots+
 Strabismus+++
 Cataract++++
 Glaucoma+
 Ectopia lentis++
 Flat cornea++
Auditory
 Hearing loss++
Cardiovascular
 ASD/VSD/TOF/PDA/PFO+/+/+/+/+/–/–/–/––/–/–/–/+–/+/–/+/-+/–/–/–/–
 Dilatation or dissection of aorta+++++
 Dilatation of main pulmonary artery++
 MVP++
 Tricuspid regurgitation+++++
 Pulmonary artery hypertension+++++
 Cardiomyopathy with biventricular enlargement++
Haematologic
 Leukaemia+
Skeletal
 Atlantoaxial instability+
 Scoliosis++++
 Joint hypermobility++++
 Pectus carinatum/excavatum+++
 Arachnodactyly+++++
 Ulnar deviation of wrists+++
Pulmonary
 Obstructive sleep apnea++
 Apical blebs+
 Congenital diaphragmatic hernia++Left hemidiaphragm and a right anterior diaphragmatic hernia
Dermatological
 Seborrheic dermatitis++
 Alopecia areata++
 Striae atrophicae+++
Other problems
 Immunodeficiency+
  • ASD, atrial septal defect; DS, Down syndrome; MFS, Marfan syndrome; MVP, mitral valve prolapse; PDA, patent ductus arteriosus; PFO, patent foramen ovale; TOF, tetralogy of fallot; VSD, ventricular septal defect.