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We describe a patient with a phenotype resembling Catel\u2013Manzke 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\u2010Banding 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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38172","type":"journal-article","created":{"date-parts":[[2017,3,31]],"date-time":"2017-03-31T16:17:09Z","timestamp":1490977029000},"page":"1152-1158","source":"Crossref","is-referenced-by-count":2,"title":["Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half\u2010siblings"],"prefix":"10.1002","volume":"173","author":[{"given":"Robert","family":"Pogue","sequence":"first","affiliation":[{"name":"Graduate Program in Genomic Sciences and Biotechnology Universidade Cat\u00f3lica de Bras\u00edlia Bras\u00edlia DF Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe A.","family":"Marques","sequence":"additional","affiliation":[{"name":"Graduate Program in Genomic Sciences and Biotechnology Universidade Cat\u00f3lica de Bras\u00edlia Bras\u00edlia DF Brazil"},{"name":"Biotechnology Laboratory Universidade CEUMA S\u00e3o Luis MA Brazil"},{"name":"Department of Biomedicine Universidade CEUMA S\u00e3o Lu\u00eds MA Brazil"},{"name":"Department of Pharmacy Universidade CEUMA S\u00e3o Lu\u00eds MA Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiane","family":"Kopacek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Hospital Materno Infantil Presidente Vargas (HMIPV) Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosana C. 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