title: Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
abstract: 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.
authors.affiliation: Graduate Program in Genomic Sciences and Biotechnology, Universidade Católica de Brasília, Brasília, DF, Brazil.
authors.forename: Robert
authors.initials: R
authors.lastname: Pogue
authors.affiliation: Graduate Program in Genomic Sciences and Biotechnology, Universidade Católica de Brasília, Brasília, DF, Brazil.|Biotechnology Laboratory, Universidade CEUMA, São Luis, MA, Brazil.|Department of Biomedicine, Universidade CEUMA, São Luís, MA, Brazil.|Department of Pharmacy, Universidade CEUMA, São Luís, MA, Brazil.
authors.forename: Felipe A
authors.initials: FA
authors.lastname: Marques
authors.affiliation: Department of Pediatric Endocrinology, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil.
authors.forename: Cristiane
authors.initials: C
authors.lastname: Kopacek
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.
authors.forename: Rosana C M
authors.initials: RCM
authors.lastname: Rosa
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.|Department of Biomedicine, Universidade do Vale do Rio dos Sinos (UNISINOS), São Leopoldo, RS, Brazil.
authors.forename: Luiza E
authors.initials: LE
authors.lastname: Dorfman
authors.affiliation: Graduate Program in Medical Sciences, Universidade de Brasília, Brasília, Brazil.
authors.forename: Juliana F
authors.initials: JF
authors.lastname: Mazzeu
authors.affiliation: Department of Pediatric Radiology, Hospital da Criança Santo Antônio (HCSA), Porto Alegre, RS, Brazil.
authors.forename: José A M
authors.initials: JAM
authors.lastname: Flores
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.|Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.|Department of Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.
authors.forename: Paulo R G
authors.identifier: http://orcid.org/0000-0002-7628-4877
authors.initials: PRG
authors.lastname: Zen
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.|Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.|Department of Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.|Department of Clinical Genetics, HMIPV, Porto Alegre, RS, Brazil.
authors.forename: Rafael F M
authors.initials: RFM
authors.lastname: Rosa
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D059785:Karyotype; D010375:Pedigree; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D012272:Ribs / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D035781:Siblings
keywords: abnormal ribs; abnormal vertebrae; autosomal recessive; consanguinity; delta phalanx; short stature