ß 2007 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 143A:2085–2088 (2007) New Syndrome Two Siblings With 46,XY DSD, Congenital Adrenal Hypoplasia, Aniridia, Craniofacial, and Skeletal Abnormalities and Intrauterine Growth Retardation: A New Syndrome? David J. Coman, 1,2,3 Susan M. White, 1,2,3 and David J. Amor 1,2,3 * 1 Genetic Health Services Victoria, The Royal Children’s Hospital, Melbourne, Victoria, Australia 2 The Murdoch Childrens Research Institute, The Royal Children’s Hospital, Melbourne, Victoria, Australia 3 Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia Received 22 January 2007; Accepted 9 May 2007 We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), congenital adrenal hypoplasia, aniridia, dysmorphic facial features, intrauterine growth retardation, and minor skeletal abnormalities. This combina- tion of abnormalities is yet to be recognized in the medical literature. As such, we propose that our patients represent either a new dysmorphic syndrome or a thus far unrecog- nized variation of a known syndrome, such as IMAGe syndrome. The sibling recurrence suggests autosomal recessive or X-linked patterns of inheritance. ß 2007 Wiley-Liss, Inc. Key words: congenital adrenal hypoplasia; 46,XY DSD; aniridia; intrauterine growth retardation; skeletal abnormalities How to cite this article: Coman DJ, White SM, Amor DJ. 2007. Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome? Am J Med Genet Part A 143A:2085 – 2088. INTRODUCTION Undervirilized XY males form a heterogeneous group comprising disorders affecting testicular development, androgen synthesis, or androgen action. Collectively, these disorders are classified as ‘46,XY Disorders of Sex Development’ (46,XY DSDs) [Hughes et al., 2006]. DSDs most commonly exist as an isolated finding, but a number of rare syndromic forms are also described. Here we report on two siblings with 46,XY DSD in association with congenital adrenal hypoplasia, aniridia, facial dys- morphism, intrauterine growth retardation (IUGR), and minor skeletal abnormalities. The clinical and biochemical phenotype in these patients may represent a new dysmorphic syndrome or an unusual presentation of a known syndrome. CLINICAL REPORTS Patient 1 The first child of nonconsanguineous Caucasian parents was delivered by Caesarean at 27 weeks gestation because of severe IUGR and abnormal cardiotocograph. Growth restriction had been detected from 17 weeks gestation, and amnio- centesis showed a 46,XY karyotype. There was a maternal history of hypercholesterolemia treated with cholestyramine and atorvastatin, but all medications had ceased prior to conception. There was no antenatal exposure to other teratogen or illness. Multiple abnormalities were evident at delivery. Birth weight was 678 g (3rd centile), length 31.5 cm (<10th centile), and head circumference 23.5 mm (10th–50th centile). External genitalia were female, indicating 46,XY DSD. Facial dysmorphism was present, comprising scaphocephaly with metopic and occipital prominence, prominent nose, thin lips, long philtrum, retrognathia, high arched palate, and *Correspondence to: Dr. David J Amor, Murdoch Childrens Research Institute, Flemington Rd, Parkville, Victoria 3052, Australia. E-mail: david.amor@mcri.edu.au DOI 10.1002/ajmg.a.31894