• cutis laxa
• mental retardation
• facial dysmorphism

Cutis laxa (CL) is a rare congenital disorder characterised by loose and redundant skin. Three groups of CL have been recognised, according to their mode of inheritance.

The first group, accepted as an autosomal dominant trait, is relatively benign, with late onset skin manifestations and subnormal life span. Other manifestations occasionally include pulmonary artery stenosis, emphysema, bronchiectasis, hernia, and genital prolapse.¹ This subtype is ascribed to mutations in the elastin gene.² The second group (also called Ehlers-Danlos type IX syndrome or mild Menkes syndrome) undergoes an X-linked recessive inheritance and has been ascribed to ATP7A deficiency.^3,4 The third group, inherited as an autosomal recessive (AR) trait, includes type I and type II CL, wrinkly skin syndrome, and De Barsy syndrome. Type I AR CL is characterised by early infantile pulmonary emphysema, hernias, multiple diverticulae, and a poor prognosis.⁵ Recently, fibulin 5 mutations have been reported in Turkish patients with CL AR type I and supravalvular aortic stenosis.⁶ Type II AR CL is associated with growth and developmental delay, joint laxity, peculiar face with frontal bossing, large fontanelle, and skeletal dysplasia including congenital dislocations of the hips.^7–9 A deficiency in lysyl oxydase has been suggested in CL AR type II,¹⁰ which is closely related to wrinkly skin syndrome.¹¹ Finally, De Barsy¹² syndrome is associated with mental retardation, short stature, and corneal clouding. Here, we report on a novel type of AR CL with facial dysmorphism, hygroma in early pregnancy, cleft hard palate, ventricular septal defect, and moderate mental retardation, which is distinct from previously reported AR CL.