NEW SYNDROME A Case of Robin Sequence, Microgastria, Radiohumeral Synostosis, Femoral Deficiency, and Other Unusual Findings: A Newly Recognized Syndrome? Jessica Roberts, 1 * Wilfredo Torres-Martinez, 1 Emily Farrow, 2 Abby Stevens, 1 Paula Delk, 1 Kenneth E. White, 1 and David D. Weaver 1 1 Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 2 Pediatric Center for Genomic Medicine, Children’s Mercy Hospitals and Clinics, Kansas City, Kansas Manuscript Received: 27 February 2013; Manuscript Accepted: 6 September 2013 In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recog- nized syndrome consisting of the aforementioned features, the etiology of which is unknown. Ó 2013 Wiley Periodicals, Inc. Key words: radiohumeral synostosis; microgastria; proximal femoral deficiency; Robin sequence; autism spectrum disorder; cryptorchidism; congenital hip dislocations INTRODUCTION Radiohumeral synostosis is a unique and rare congenital anomaly which occurs only in 35 recognized syndromes [POSSUM, 2012]. Among these syndromes are the Antley–Bixler and femoral-facial syndromes [McGlaughlin et al., 2010; Nowaczyk et al., 2010]. Microgastria is also a rare anomaly and is typically present as an isolated occurrence but can also occur with spleen and renal defects, or as part of a genetic syndrome. Only 59 cases of microgastria had been reported in the literature as of 2009 [Vasas et al., 2010]. To our knowledge, microgastria has never been reported to be a feature of any syndrome that also includes radiohumeral synostosis. Micro- gastria, however, is known to be associated with limb reduction defects in the microgastria-limb reduction syndrome [Stewart et al., 2002]. Here we report on a boy with a unique set of congenital anomalies that includes Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, congenital hip disloca- tion, proximal femoral deficiency, and an autism spectrum disor- der. In reviewing the literature, we found no other syndromes or reported cases with a similar phenotype. We, therefore, propose that the patient reported here has a newly recognized dysmorphic syndrome. CLINICAL REPORT The propositus, when last evaluated by us, was an 8-year-old male who was born at 29 weeks gestation to a 35-year-old G1P0 mother. He was delivered via emergency cesarean due to maternal HELLP syndrome. His birth weight and length were 0.91kg (10th–25th centile) and 29.2 cm (>4 SD below the mean), respectively. The patient was conceived via in vitro fertilization. Initially, the preg- nancy was a twin gestation, but the co-twin died at 7 weeks gestation. There were no other reported complications during the pregnancy, including no reported history of diabetes, pre-gestational diabetes, or gestational diabetes in the patient’s mother. Robin sequence was detected at approximately 20 weeks gestation via sonography. At birth, the patient had Robin sequence and short femurs. He remained in the neonatal intensive care unit for 6 months. During How to Cite this Article: Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD. 2014. A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome? Am J Med Genet Part A 164A:287–290. Ã Correspondence to: Jessica Roberts, 3980 John R, 4 Webber North, Box 160, Detroit, MI 48201. E-mail: robertsjessicalynn@gmail.com Article first published online in Wiley Online Library (wileyonlinelibrary.com): 5 December 2013 DOI 10.1002/ajmg.a.36273 Ó 2013 Wiley Periodicals, Inc. 287