Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound

Prenatal Diagnosis

Volumn 27, Issue 6, 2007, Pages 566-567

  Holden, Simon ^a,b   Ahuja, Sapna ^a   Ogilvy Stuart, Amanda ^a   Firth, Helen V ^a   Lees, Christoph ^a,c  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c Rosie Maternity Hospital   (United Kingdom)

Author keywords

3 D ultrasonography; Arthrogryposis; Distal contractures; Harlequin ichthyosis; Prenatal diagnosis

Indexed keywords

ADULT; ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE MUTATION; HARLEQUIN ICHTHYOSIS; HUMAN; ICHTHYOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN BIOPSY; THREE DIMENSIONAL IMAGING;

ACITRETIN; ADULT; ARTHROGRYPOSIS; FEMALE; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT, NEWBORN; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 34347253003     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1727     Document Type: Article

References (5)

1. Berg C, Geipel A, Kohl M, et al. 2003. Prenatal sonographic features of Harlequin ichthyosis. Arch Gynecol Obstet 268: 48-51.
2. Bongain A, Benoit B, Ejnes L, Lambert JC, Gillet JY. 2002. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound Obstet Gynecol 20: 82-85.
3. Kelsell DP, Norgett EE, Unsworth H, et al. 2005. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76: 794-803.
4. Prasad RS, Pejaver RK, Hassan A, al Dusari S, Wooldridge MA. 1994. Management and follow-up of harlequin siblings. Br J Dermatol 130: 650-653.
5. Vohra N, Rochelson B, Smith-Levitin M. 2003. Three-dimensional sonographic findings in congenital (harlequin) ichthyosis. J Ultrasound Med 22: 737-739.