Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis

Authors


  • Web Resources: A McKusick number is used (in parentheses) to reference the many conditions and loci/genes discussed in the article. The URL for Online Mendelian Inheritance in Man (OMIM) is http://www.ncbi.nlm.nih.gov/Omim/.

  • How to cite this article: Subhani M, Akangire G, Kulkarni A, Wilson GN. 2009. Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis. Am J Med Genet Part A 149A:1494–1498.

Abstract

We describe a girl infant with anomalies of the left pelvis and lower limb (pelvic, femoral, and tibial hypogenesis with absent fibula), subtle facial changes, patent foraman ovale, single umbilical artery, single kidney, and imperforate anus. The external genitalia were asymmetric and ambiguous with normal uterus and ovaries visualized by ultrasound. The anomalies are compatible with previously reported cases of Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia, an autosomal recessive disorder with WNT7 gene mutations documented in one family. We suggest that AARRS phocomelia, Fuhrmann syndrome, and similar conditions comprise a spectrum, and that the anomaly pattern derives from serial action of the same signal pathways within primary (e.g., the major axes), secondary (e.g., heart or limb primordia), and/or local (e.g., tibial–fibular differentiation) developmental fields. © 2009 Wiley-Liss, Inc.

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