Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? Shane A McKee a,f , Angela Barnicoat b , Alan Fryer c , Frances Flinter d , David McCormick e and Carole McKeown a a Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, UK b Department of Clinical Genetics, Great Ormond Street Hospital, London, UK c Mersey Regional Genetics Service, Alder Hey Children’s Hospital, Liverpool, UK d Clinical Genetics Unit, Guy’s Hospital, London, UK e Kent and Canterbury Hospital, Canterbury, UK f Department of Medical Genetics, Belfast City Hospital, Lisburn Rd, Belfast, UK Correspondence to Dr Shane McKee, Department of Medical Genetics, Belfast City Hospital Lisburn Rd, Belfast BT9 7AB, UK Tel: 44 28 9032 9241 ext 2931; Fax: 44 28 9023 6911; E-mail: shane@palmaris.com Received: 7 December 1999; accepted as revised: 23 February 2001 We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to Ehlers-Danlos syndrome type VI, but with no evidence of lysyl hydroxylase deficiency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance. Clin Dysmorphol 10: 177–180 # 2001 Lippincott Williams & Wilkins Keywords: Ehlers-Danlos syndrome, connective tissue abnormalities, collagen defects, contractures CASE REPORT The proposita is a female child who was born by normal delivery at term in Bangladesh, the first child of healthy first-cousin parents. Maternal and paternal ages at birth were 26 and 27 years respectively. The preg- nancy was uncomplicated, and birth weight was 2.3 kg. At birth she was hypotonic, and was noted to have bilateral talipes equinovans, adducted thumbs, joint laxity, and macrocephaly. At 1 year of age she was diagnosed as having communicating hydrocephalus with a Dandy-Walker malformation, and had a ventri- culoperitoneal shunt inserted at the age of 2 years. Her muscular hypotonia persisted. She had markedly long fingers and toes, with thin limbs, and there were signs of developing contractures at the elbow joints, along- side generalized laxity at other joints. By 8 years of age she was physically disabled by extreme joint laxity, particularly of the small joints of the hands and feet, and suffered recurrent spontaneous dislocations of the sternoclavicular joints and patellae. There was ‘swan-necking’ and prominent heels. There was thin skin over palms and soles which had a fine reticular creasing pattern (Figure 1). Elsewhere the skin appeared to be of normal thickness, although strikingly soft and hyperelastic. Rubbing the skin induced hyper- algesia. She had bilateral microcornea, with myopia of 6 dioptres on the right and 10 on the left. The sclerae were blue. She had sparse hair with a low posterior hairline. Stature was normal, and intelligence was normal, although speech was indistinct. At the age of 9 years she began to develop head- aches, and had sudden onset of paraparesis with incontinence of both bladder and bowel. Shunt block- age was diagnosed, and magnetic resonance imaging revealed a syrinx of the spinal cord. Aspiration of Clinical Dysmorphology 2001, 10:177–180 0962-8827 # 2001 Lippincott Williams & Wilkins Clinical Dysmorphology 2001, Vol 10 No 3 177