Letter to the Editor
Relevance of new genetic tests in the diagnosis of short stature with dysmorphic features
Relevancia de las nuevas pruebas genéticas en el diagnóstico de la talla baja con dismorfias
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Pilar Bahíllo-Curieses, Sofía Galbis Soto, Juan José Tellería Orriols" "autores" => array:3 [ 0 => array:4 [ "nombre" => "M. Pilar" "apellidos" => "Bahíllo-Curieses" "email" => array:1 [ 0 => "pilarbahilloc@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Sofía" "apellidos" => "Galbis Soto" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Juan José" "apellidos" => "Tellería Orriols" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Pediatría y Endocrinología Pediátrica, Hospital Clínico Universitario, Valladolid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Instituto de Biología y Genética Molecular, Universidad de Valladolid/Consejo Superior de Investigaciones Científicas, Valladolid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Relevancia de las nuevas pruebas genéticas en el diagnóstico de la talla baja con dismorfias" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 617 "Ancho" => 950 "Tamanyo" => 82438 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The image shows a portion of the sequence obtained from the SKI gene exon with the c.1799dupA mutation. The shaded area indicates where the insertion of a nucleotide occurs, and the appearance of double signal in the subsequent positions.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">In most cases, short stature associated with dysmorphic features entails a diagnostic challenge. In the absence of a particular phenotype which could help in the indication of a specific genetic test, a comprehensive genome assessment may be required, such as the use of comparative genomic hybridization (CGH) <span class="elsevierStyleItalic">arrays</span>, especially indicated in patients with short stature, dysmorphic features and developmental delay. We present two cases of patients in whom genetic testing contributed to the diagnosis.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Case 1</span><p id="par0010" class="elsevierStylePara elsevierViewall">9 years and 9 months old girl with short stature and dysmorphic features. Born by Caesarean section at 27 weeks of gestational age (GA): weight 750<span class="elsevierStyleHsp" style=""></span>g (SD: −1:31), size 34<span class="elsevierStyleHsp" style=""></span>cm (SD: −0.84). She had initial psychomotor retardation with favourable progression. Mild pulmonary valve stenosis. Primary autoimmune hypothyroidism under treatment from 4 years and 6 months. Physical examination: height 125.5<span class="elsevierStyleHsp" style=""></span>cm (SD: −1.96), BMI 14.8<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span> (SD: −1.15) arm span 129<span class="elsevierStyleHsp" style=""></span>cm, US/LS<span class="elsevierStyleHsp" style=""></span>=<span class="elsevierStyleHsp" style=""></span>0.84, sitting height/height<span class="elsevierStyleHsp" style=""></span>=<span class="elsevierStyleHsp" style=""></span>0.53 (PC 50). Dolichocephaly, elongated facies, broad forehead, hypertelorism, flat nasal root, antimongoloid palpebral fissure, thin upper lip, gothic palate, broad chest, short neck, <span class="elsevierStyleItalic">cubitus valgus</span>, <span class="elsevierStyleItalic">pectus excavatum</span>, joint hyperlaxity and the rest normal. Tanner I. Additional examinations: blood count, blood biochemistry, TSH, free T4, all normal. IGF1 202<span class="elsevierStyleHsp" style=""></span>mg/dl (SD: +0.65). Karyotype 46 XX. Bone age of 8 years and 3 months for 9 years and 3 months (TW2RUS). Due to the existence of short stature, dysmorphic features and pulmonary stenosis, exome capture and sequencing is performed, initially proceeding to screening for variants in genes described as responsible for Noonan syndrome. After a negative result, other genes listed in OMIM were studied, identifying a heterozygous frameshift mutation in the SKI gene (variant c.1799dupA) (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) described in the literature as responsible for Shprintzen–Goldberg syndrome (SGS) (OMIM#<a id="intr0010" class="elsevierStyleInterRef" href="omim:182212">182212</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Case 2</span><p id="par0015" class="elsevierStylePara elsevierViewall">8 years and 3 months old girl with short stature, dysmorphic features and psychomotor retardation of unknown cause. Parents with second degree consanguinity. Born at 32 weeks of GA: weight 1850<span class="elsevierStyleHsp" style=""></span>g (SD: +0.6), size 43<span class="elsevierStyleHsp" style=""></span>cm (SD: +0.8). Primary autoimmune hypothyroidism diagnosed at the age of 2. Physical examination: height 109.1<span class="elsevierStyleHsp" style=""></span>cm (SD: −3.8), head circumference 48<span class="elsevierStyleHsp" style=""></span>cm (SD: −3.02), BMI 13.4<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span> (SD: −1.12) arm span 107<span class="elsevierStyleHsp" style=""></span><span class="elsevierStyleHsp" style=""></span>cm, sitting height/height<span class="elsevierStyleHsp" style=""></span>=<span class="elsevierStyleHsp" style=""></span>0.54 (PC 50), US/LS<span class="elsevierStyleHsp" style=""></span>=<span class="elsevierStyleHsp" style=""></span>1.1. Dolichocephaly, hypertelorism, bilateral epicanthus, flat nasal root, wide <span class="elsevierStyleItalic">philtrum</span>, thin upper lip, gothic palate, frontal bossing, large pinnae usually implanted, tapered fingers and the rest normal. Tanner I. Additional examinations: blood count, blood biochemistry, TSH, free T4, all normal. Karyotype 46 XX, IGF-1 172<span class="elsevierStyleHsp" style=""></span>ng/ml (SD: −0.8). Bone age: 7 years for 8 years and 3 months (TW2RUS). <span class="elsevierStyleItalic">CGH arrays</span>: 16p11.2 duplication of 517<span class="elsevierStyleHsp" style=""></span>Kb.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Most dysmorphic syndromes are included within the group of rare diseases, understood as those whose prevalence is less than 5 cases per 10,000 people.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> Short stature is frequently associated with other syndromes, has a multifactorial aetiology and may present associated hormone deficiencies. Although our 2 patients have short stature and some degree of psychomotor retardation, they lack comorbidities, except for primary autoimmune hypothyroidism, which is well controlled. Both have facial dysmorphic features, some common, but not pathognomonic of any entity. Extended genetic studies allowed an etiologic orientation in both cases. A mutation in the SKI gene, responsible for SGS, was described in the first patient, with a dominant inheritance pattern and low prevalence.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> Patients with SGS have no pathognomonic signs. Their diagnosis is based on a combination of clinical features.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> Two-thirds of patients present with hypertelorism, micrognathia and low-set and rotated ears. Craniosynostosis, dolichocephaly, blepharoptosis, exophthalmos, strabismus, maxillary hypoplasia, skeletal and auricular malformations (arachnodactyly, sternal deformities, scoliosis, and joint hyperlaxity) are also described.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> A 16p11.2 duplication was identified in the second case, characterized by developmental delay, autistic or repetitive behaviour, dysmorphic features, microcephaly, short stature and tapered fingers.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a> Some of the features most often found include: hypertelorism, wide <span class="elsevierStyleItalic">philtrum</span>, thin upper lip, tapered fingers, frontal bossing with low posterior hairline; some of which were present in the second case.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">In conclusion, short stature with dysmorphic features is a difficult-to-diagnose entity. A thorough physical examination is essential. In some cases, the use of new genetic techniques is decisive in the management of these patients.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Case 1" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Case 2" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Bahíllo-Curieses MP, Galbis Soto S, Tellería Orriols JJ. Relevancia de las nuevas pruebas genéticas en el diagnóstico de la talla baja con dismorfias. Med Clin (Barc). 2016;147:e67–e68.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 617 "Ancho" => 950 "Tamanyo" => 82438 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The image shows a portion of the sequence obtained from the SKI gene exon with the c.1799dupA mutation. The shaded area indicates where the insertion of a nucleotide occurs, and the appearance of double signal in the subsequent positions.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Enfermedades raras: concepto, epidemiología y situación actual en España" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "M. Posada" 1 => "C. Martín-Arribas" 2 => "A. Ramírez" 3 => "A. Villaverde" 4 => "I. 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