Received: 29 March 2016 | Revised: 12 January 2017 | Accepted: 12 January 2017 DOI 10.1002/ajmg.a.38172 NEW SYNDROME Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings Robert Pogue 1 | Felipe A. Marques 1,2,3,4 | Cristiane Kopacek 5 | Rosana C. M. Rosa 6 | Luiza E. Dorfman 6,7 | Juliana F. Mazzeu 8 | José A. M. Flores 9 | Paulo R. G. Zen 6,10,11 | Rafael F. M. Rosa. 6,10,11,12 1 Graduate Program in Genomic Sciences and Biotechnology, Universidade Católica de Brasília, Brasília, DF, Brazil 2 Biotechnology Laboratory, Universidade CEUMA, São Luis, MA, Brazil 3 Department of Biomedicine, Universidade CEUMA, São Luís, MA, Brazil 4 Department of Pharmacy, Universidade CEUMA, São Luís, MA, Brazil 5 Department of Pediatric Endocrinology, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil 6 Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil 7 Department of Biomedicine, Universidade do Vale do Rio dos Sinos (UNISINOS), São Leopoldo, RS, Brazil 8 Graduate Program in Medical Sciences, Universidade de Brasília, Brasília, Brazil 9 Department of Pediatric Radiology, Hospital da Criança Santo Antônio (HCSA), Porto Alegre, RS, Brazil 10 Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil 11 Department of Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil 12 Department of Clinical Genetics, HMIPV, Porto Alegre, RS, Brazil Correspondence Prof. Rafael F. M. Rosa, M.D., Ph.D., Genética Clínica, UFCSPA/CHSCPA, Rua Sarmento Leite, 245/403, CEP: 90050-170 Porto Alegre, RS, Brazil. Email: rfmrosa@gmail.com Funding information The Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Fundação de Apoio a Pesquisa do Distrito Federal (FAP-DF), Grant number: 564537/2010 Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel–Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive pattern of inheritance, although due to the high degree of consanguinity a compound etiology of the phenotype by variants in various genes may be present as well. KEYWORDS abnormal ribs, abnormal vertebrae, autosomal recessive, consanguinity, delta phalanx, short stature Robert Pogue and Felipe A. Marques contributed equally to the development of the manuscript. Am J Med Genet 2017;9999:1–7 wileyonlinelibrary.com/journal/ajmga © 2017 Wiley Periodicals, Inc. | 1