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

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

	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
Skin	Coarse face	Loose redundant skin folds	Loose redundant skin folds	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

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].