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Case report
Cephaloskeletal dysplasia (Taybi-Linder syndrome): Case report and anesthetic considerations
Displasia cefaloesquelética (Síndrome de Taybi-Linder): Presentación de un caso y consideraciones anestésicas
Jesús Acosta-Martínez
Corresponding author
acostamartinez.jesus@gmail.com

Corresponding author at: C/ Castillo de Marchenilla, n° 5, núcleo 1, 3° C, CP 41013 Sevilla, Spain.
, Rosana Guerrero-Domínguez, Daniel López-Herrera-Rodríguez, Marta García-Santigosa, Francisco Sánchez-Carrillo, María Luisa Marenco de la Fuente
Anestesiología y Reanimación, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">The Taybi-Linder syndrome&#44; also known as microcephalic osteodysplastic primordial dwarfism &#40;MOPD&#41; types I and III&#44; is a rare&#44; potentially inherited autosomal recessive condition&#46; It is characterized by intrauterine growth retardation &#40;IGR&#41;&#44; bone dysplasia &#40;including the facial skeleton&#41; and central nervous system malformations including brain malformations&#44; refractory epilepsy&#44; sensitive deficits&#44; cognitive deficits and neuroendocrine disorders&#46; Notwithstanding the potential complications that the anesthesiologist may face&#44; primarily related to airway abnormalities and the frequent association with neurological pathology&#44; particularly epilepsy and neuroendocrine disorders&#44; there are very few publications in the specialized bibliography&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Majewski et al&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2</span></a> classified patients with microcephalic primordial dwarfism into two categories&#58; Seckel syndrome and osteodysplastic primordial dwarfism &#40;ODPD&#41; that is further subdivided into three groups&#58; I&#44; II and III&#44; primarily based on the skeletal characteristics&#46; Seckel syndrome was defined as severe IGR and postnatal dwarfism with severe microcephaly characterized by &#8220;bird-like face&#8221;&#44; micrognathia&#44; pointed nose&#44; and receding forehead&#44; associated with cognitive impairment and other abnormalities but with no skeletal malformations&#44; except for occasional dislocation of the head of radius&#46; Patients with ODPD present the same craniofacial characteristics but associated with skeletal abnormalities&#46; The current medical bibliography equates the definition of Taybi-Linder syndrome with ODPD types I and III&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The situations when the anesthesiologist may be faced with this pathology range from complementary testing &#40;imaging diagnosis&#41;&#44; mainly in pediatric patients&#44; to perioperative management of anesthesia&#44; primarily orthopedic surgery as a palliative approach to bone abnormalities&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Clinical case</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Patient information</span><p id="par0020" class="elsevierStylePara elsevierViewall">This case refers to a 20-year-old patient &#40;10<span class="elsevierStyleHsp" style=""></span>kg of body weight&#41;&#44; undergoing exploratory laparotomy due to bowel obstruction from adhesions&#46; The patient was diagnosed with Taybi-Linder syndrome and total colonic Hirschsprung requiring total colectomy and ilio-anal anastomosis&#44; in addition to a number of subsequent re-interventions due to obstructions secondary to intestinal adhesions&#46; There were no difficulties with the endotracheal intubation of the patient during the previous procedures&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Clinical findings and interventions</span><p id="par0025" class="elsevierStylePara elsevierViewall">A detailed history of the patient was recorded during the pre-anesthesia consultation before surgery&#46; Due to poor patient cooperation&#44; there was some degree of difficulty to evaluate the airway&#44; the absence of epileptic seizures in the last 5 years &#40;without basal treatment&#41;&#44; or any hydro electrolytic imbalances&#46; No difficult airway predictors or difficult manual ventilation were identified during the examination of the airway&#59; however&#44; the patient&#39;s facial anatomy was suggestive of difficult intubation&#46; Based on past surgical experiences with no difficulty to access the airway&#44; no special measures were taken in this regard&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">The patient arrived at the OR with adequate anxiolysis &#40;2<span class="elsevierStyleHsp" style=""></span>mg of intranasal midazolam administered 30<span class="elsevierStyleHsp" style=""></span>min earlier&#41; to proceed with inhaled induction &#40;8&#37; sevoflurane with fresh gas flow of 6<span class="elsevierStyleHsp" style=""></span>L&#47;min and tidal volume for spontaneous breathing&#41; while standard monitoring procedures are followed &#40;electrocardiography&#44; non-invasive blood pressure control&#44; and pulse oximetry&#41;&#44; in addition to pediatric bilateral bispectral index &#40;BIS&#41;&#44; including spectral density matrix &#40;SDM&#41; monitoring&#46; A peripheral 22<span class="elsevierStyleHsp" style=""></span>G venous line is inserted in the right upper limb for the administration of 30<span class="elsevierStyleHsp" style=""></span>mg of Propofol&#44; 30<span class="elsevierStyleHsp" style=""></span>&#956;g of fentanyl&#44; and 10<span class="elsevierStyleHsp" style=""></span>mg of rocuronium&#46; After completing the anesthetic induction&#44; the orotracheal intubation is performed with no preliminary manual ventilation &#40;5&#46;0<span class="elsevierStyleHsp" style=""></span>mm external diameter tube with pneumoplugging&#41; for full visualization of the glottis&#44; Cormack&#8211;Lehane Grade I&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Anesthesia is maintained with sevoflurane 0&#46;8 CAM &#40;BIS target 40&#8211;60&#41; in semi-closed loop &#40;fresh gas flow 1<span class="elsevierStyleHsp" style=""></span>L&#47;min&#44; 40&#37; inspired oxygen fraction in medicinal air&#41;&#44; and fentanyl dosing as needed for adequate analgesia&#46; The procedure begins with a supra and infra umbilical laparotomy approach to proceed with the adhesiolysis and enteropexy&#46; Support vasoactive treatment and blood products transfusion were not required during the intervention&#46; No remarkable changes were observed in the BIS monitor EEG wave&#44; with no evidence of SDM waves or registry compatible with epileptic seizures&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">The postoperative analgesia was administered using a morphine chlorine pump for 48<span class="elsevierStyleHsp" style=""></span>h and NSAIDs&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Follow-up</span><p id="par0045" class="elsevierStylePara elsevierViewall">When the surgical procedure was over&#44; the patient was educted from anesthesia and extubated in the OR uneventfully&#46; The clinical evolution of the patient was favorable and she was able to be discharged 5 days after surgery&#46;</p></span></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Discussion</span><p id="par0050" class="elsevierStylePara elsevierViewall">Taybi-Linder syndrome or microcephalic osteodysplastic primordial dwarfism types 1 and 3 &#40;MOPD&#41;&#59; exhibit a phenotypic pattern characterized by intrauterine and postnatal growth retardation&#44; microcephaly&#44; dysmorphic facies&#44; skeletal dysplasia&#44; low birth weight&#44; and brain abnormalities&#46; According to the initial descriptions&#44; both types were considered separate pathologies based on radiological criteria&#46; However&#44; more recent genetic studies have come to the conclusion that both types may be considered as two different ways of expressing the same syndrome&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">The prevalence is difficult to estimate&#44; but according to the organizations that study rare pathologies&#44; the estimate may be less than one case per one million people&#46; The facial pattern is characterized by a prominent nose with flat nasal bridge&#44; bulging eyes&#44; receding forehead and micrognatia&#46; The most common neurological manifestations are seizures and intellectual deficit&#44; the latter being a characteristic of the case herein discussed&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> The genetics of MOPD types 1 and 3 is autosomal recessive&#46; Recent studies have been able to identify a snRNA &#40;<span class="elsevierStyleItalic">small nuclear</span>&#41; U4atac as the gene responsible for Taybi-Linder syndrome&#46;<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">4&#8211;7</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">The presence of neuroendocrine disorders has been documented in very few patients&#59; however&#44; the Taybi-Linder syndrome has been associated with incipient diabetes&#44; electrolytic imbalances&#44; hypothyroidism&#44; hypothalamic disorders&#44; hypogonadism&#44; cryptorchidism&#44; micropenis and hypospadias&#46;<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">8&#44;9</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Typically&#44; the diagnosis has been based on the patients&#8217; phenotypical and radiological characteristics&#59; the latter include shortened tubular bones&#44; arching of the long bones and widened intervertebral space&#46; <a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> The entities considered for differential diagnosis include type 2 MOPD &#40;radiological diagnosis&#41; and other types of primordial dwarfism&#46; The advances in fetal medicine have enabled the development of ultrasound screening for types 1 and 3 MOPD during the second trimester of pregnancy&#46; Prenatal diagnosis is of the essence since currently we do not have any available therapeutic tools and the prognosis for this patient is extremely severe&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">With regards to the management of anesthesia in these patients&#44; airway management should be emphasized since the facial abnormalities may lead to a difficult airway and clinical neurological outcomes&#44; particularly epileptic seizures&#46; The previous surgical interventions that the patient underwent developed uneventfully&#59; consequently&#44; a difficult airway was not expected and anticonvulsive prophylaxis was not warranted&#46; However&#44; we avoided using pro-convulsive medications &#40;i&#46;e&#46;&#44; etomidate&#41; and constantly monitored the depth of anesthesia using a pediatric BIS sensor&#44; paying special attention to the spectral density matrix&#59; no signs of epileptic seizures were identified&#46;</p><p id="par0075" class="elsevierStylePara elsevierViewall">Facial malformations include microcephaly &#40;the head&#8211;body ratio is normal at birth&#44; but the body grows disproportionally as compared to the head during development&#41;&#59; early closure of the fontanelles&#44; craniosynostosis&#44; prominent nose and bulging eyes&#59; small&#44; widely separated teeth&#44; with poor enamel and sometimes congenital absence of permanent teeth&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Informed consent</span><p id="par0080" class="elsevierStylePara elsevierViewall">Due to the patient&#39;s cognitive impairment &#40;mental age of approximately 3 years old&#41;&#44; her legal representatives &#8211; in this case her parents &#8211; signed the informed consent for surgery&#46;</p></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Ethical disclosures</span><span id="sec0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Protection of human and animal subjects</span><p id="par0145" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study&#46;</p></span><span id="sec0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0100">Confidentiality of data</span><p id="par0150" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span><span id="sec0065" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0105">Right to privacy and informed consent</span><p id="par0155" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0110">Funding</span><p id="par0085" class="elsevierStylePara elsevierViewall">The authors did not receive sponsorship to undertake this article&#46;</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0115">Conflicts of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Introduction</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Microcephalic osteodysplastic primordial dwarfism &#40;or Taybi-Linder syndrome&#41; is a rare disease characterized by bone and central nervous system malformations&#44; in addition to intrauterine retardation&#46;</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Case presentation</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">20-year-old patient operated on for adhesiolysis and enteropexy due to bowel obstruction from post surgical adhesions&#46;</p></span> <span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Conclusion</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">The anesthetic considerations in these patients include the potential airway impairment secondary to facial malformations and neurological complications&#44; primarily seizures&#46;</p></span>"
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        "resumen" => "<span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Introducci&#243;n</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">El enanismo microcef&#225;lico osteodispl&#225;sico primario &#40;o s&#237;ndrome de Taybi-Linder&#41; es una infrecuente enfermedad caracterizada por malformaciones &#243;seas&#44; del sistema nervioso central y crecimiento intrauterino retardado&#46;</p></span> <span id="abst0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Presentaci&#243;n del caso</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Paciente de 20 a&#241;os intervenida de adhesiolisis y pexia intestinal por un cuadro de obstrucci&#243;n intestinal por bridas postquir&#250;rgicas&#46;</p></span> <span id="abst0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusi&#243;n</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Como consideraciones anest&#233;sicas de estos pacientes destacamos las posibles alteraciones de la v&#237;a a&#233;rea secundarias a las malformaciones faciales y las complicaciones neurol&#243;gicas&#44; principalmente crisis convulsivas&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Acosta-Mart&#237;nez J&#44; Guerrero-Dom&#237;nguez R&#44; L&#243;pez-Herrera-Rodr&#237;guez D&#44; Garc&#237;a-Santigosa M&#44; S&#225;nchez-Carillo F&#44; Marenco de la Fuente ML&#46; Displasia cefaloesquel&#233;tica &#40;S&#237;ndrome de Taybi-Linder&#41;&#58; Presentaci&#243;n de un caso y consideraciones anest&#233;sicas&#46; Rev Colomb Anestesiol&#46; 2016&#59;44&#58;40&#8211;43&#46;</p>"
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Article information
ISSN: 22562087
Original language: English
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