Article Text

Download PDFPDF
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
  1. D Genevieve1,
  2. C Baumann2,
  3. C Huber1,
  4. L Faivre1,
  5. D Sanlaville1,
  6. C Bodemer1,
  7. S Hadj-Rabia1,
  8. A Assoumou3,
  9. A Verloes2,
  10. F Raqbi1,
  11. A Munnich1,
  12. V Cormier-Daire1
  1. 1Département de Génétique, Service de Dermatologie et de Pédiatrie Générale, Hôpital Necker Enfants Malades, Paris, France
  2. 2Service de Néonatologie, Hôpital Robert Debré, Paris, France
  3. 3Laboratoire de Physiopathologie des Tissus non Minéralisés, Faculté de Chirurgie Dentaire, Université René Descartes, Paris, France
  1. Correspondence to:
 V Cormier-Daire
 Hôpital Necker Enfants Malades, 149 rue de Sèvres 75743 Paris Cedex 15, France;

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

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.


Patient 1, a girl, was the fourth child of first cousin healthy Tunisian parents (fig 1). The pregnancy was uneventful. Moderate hypotonia and cutis laxa were noted in the neonatal period (birth length …

View Full Text