ß 2007 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 143A:3169–3174 (2007) Clinical Report Al-Awadi/Raas-Rothschild Syndrome: Two New Cases and Review Fortunato Lonardo, 1 Giovanna Sabba, 2 Daniela Varela Luquetti, 1 Matteo Della Monica, 1 and Gioacchino Scarano 1 * 1 Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy 2 Department of Pediatrics, General Hospital, Maddaloni, Italy Received 24 June 2005; Accepted 3 January 2007 Al-Awadi/Raas-Rothschild syndrome, an autosomal reces- sive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homo- zygous WNT7A mutation was identified by Woods et al. [2006]: 1179C ! T, resulting in Arg292Cys with complete loss of WNT7A function. ß 2007 Wiley-Liss, Inc. Key words: limb/pelvis hypoplasia/aplasia syndrome; limb deficiency defects; pelvic hypoplasia; atresia of the esophagus; tracheoesophageal fistula; imperforate anus; cleft palate; Schinzel phocomelia syndrome; Fuhrmann syndrome; WNT7A How to cite this article: Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. 2007. Al-Awadi/Raas-Rothschild syndrome: Two new cases and review. Am J Med Genet Part A 143A:3169 – 3174. INTRODUCTION Limb deficiency may occur as an isolated defect, as part of a developmental field defect, or as a component of various syndromes. Al-Awadi/Raas- Rothchild syndrome (AA/RR-S) is characterized by malformations of the upper and lower limbs, and a hypoplastic pelvis. Here, we describe two new cases of AA/RR-S, report some new findings, and propose criteria necessary for diagnosis. Inheritance is auto- somal recessive. CLINICAL REPORT We report a nonconsanguineous couple with two affected fetuses (Figs. 1–4), the products of the first and third pregnancies. In the first pregnancy, an ultrasound at 20 weeks showed severe growth retardation, short limbs, fetal hydrops, and cervical and lumbar meningocele. After genetic counseling, the couple decided to terminate the pregnancy, which was interrupted at 22 weeks. The fetus was remarkably short and weighed 264 g. Anomalies included a small nose; low-set ears; cleft palate; micrognathia; short neck; cervical meningo- cele; lumbar myelocele (1 cm diameter) covered by skin; short upper limbs without hand differentiation; lower limbs with feet apparently attached to the femora; oligodactyly; imperforate anus; and ambig- uous genitalia. The necropsy showed esophageal atresia with tracheo-esophageal fistula and failure of the kidneys to fully ascend; ovaries were present. Radiographs disclosed hypoplastic humeri, absent forearms and hand bones, hypoplastic pelvis, short bowed femora, absent tibiae and fibulae; and oligodactyly of the feet. It was not possible to examine the vertebrae. The second pregnancy of the couple resulted in a normal male child. In the third pregnancy, an ultrasound at 18 weeks identified fetal growth retardation, short limbs, and clubfoot. The couple decided to interrupt the gestation at 21 weeks. On examination, the male fetus weighted 222 g, and had a short, hyperex- tended neck; small flat nose; hypertelorism; long philtrum; downturned mouth; micrognathia; low-set ears; cutaneous webbing extending from the neck to the shoulder on the right side; short forearms, *Correspondence to: Gioacchino Scarano, Medical Genetics Depart- ment, Azienda Ospedaliera ‘‘Gaetano Rummo,’’ Via dell’Angelo, 1, Padiglione S. Pio da Pietrelcina, IV piano, 82100 Benevento, Italy. E-mail: gioacchino.scarano@ao-rummo.it DOI 10.1002/ajmg.a.31712