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Table 4 Clinical characteristics of ADCL and type 1 recessive cutis laxa syndromes

From: Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

  ADCL ARCL type Ia ARCL type 1c ARCL type 1b
(ELN) (FBLN5) (LTBP4) (FBLN4)
Dysmorphism Long philtrum, beaked nose Long philtrum, large ears, beaked nose Long philtrum, large ears, beaked nose, sparse hair on temporal sides  
Skin Loose redundant skin folds Loose redundant skin folds Loose redundant skin folds Hyperextensible skin
Coarse face Skin redundancy
Cardiovascular ARD, valvular anomalies SVAS, PPAS PPAS, CPAS ARD, multiple arterial aneurysms
Emphysema + +++ +++ +/-
Genitourinary diverticula + +++ ++ ?
Gastro-intestinal diverticula/tortuosity - + +++ ?
Inheritance AD AR AR AR
  1. ARD, aortic root dilatation; SVAS, supravalvular aortic root stenosis; PPAS, peripheral pulmonary artery stenosis; CPAS, common pulmonary artery stenosis; AD, autosomal dominant; AR, autosomal recessive. References: [3–8, 18–22].
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172