a 16-year - old female patient presented with a 3-month history of intermittent vaginal bleeding for treatment at our gynecologic clinic for outpatients . a pelvic examination and vaginal sonography were attempted at the ambulatory care clinic but failed due to lack of patient cooperation caused by her mental retardation . , she was born through a cesarean delivery due to hydroamnios at 39 weeks of gestation , and her birth weight was 3,200 g. one month after birth , congenital disorders were suspected and a systemic examination was carried out . as a result , she was diagnosed with dubowitz syndrome accompanied with an atrial septal defect . she had undergone ptosis surgery under general anesthesia at age 4 , and had a history of undergoing general anesthesia for tooth decay treatments . on the pre - anesthetic visit , she was 150 cm in height , 49 kg in weight , and showed mild physical growth retardation as well as severe mental retardation with a 1-year old cognitive function . the patient had the characteristic facial appearance , such as microcephaly , sparse hair , sloping forehead , sparse eyebrows and eyelash , blepharophimosis , low set ears , broad and flat nasal bridge , micrognathia , dental malocclusion ( fig . 2 ) , which conforms to the common symptoms of dubowitz syndrome . on an airway evaluation , the modified mallampati classification was class i , but micrognathia and uneven teeth were observed . the pre - operative electrocardiogram revealed a premature atrial beat , and the blood test showed a decreased hemoglobin and hematocrit level of 5.4 g / dl and 18.7% , respectively , due to vaginal bleeding . the findings of the chest x - ray and urine test were normal . to correct the low hemoglobin level , 3 units of packed red blood cell were transfused to increase the blood level to 9.5 g / dl hemoglobin and 28.4% hematocrit . general anesthesia using mask ventilation was scheduled considering that the length of the test was short and the purpose of the anesthesia was for diagnosis without muscle relaxation . without premedication , she was transported to the operating room , where a monitor for the blood pressure , pulse oximetry , electrocariogram was attached to the patient . for the vital signs of pre - anesthesia , she had a heart rate , blood pressure and pulse oxygen saturation of 100 beats / min , 110/65 mmhg and 98% , respectively . mask ventilation with 100% oxygen was performed after injecting 250 mg of thiopental sodium slowly and a loss of consciousness was confirmed . however , the ventilation did not function well due to an episode of airway obstruction , and an oral airway was inserted . thereafter , normal ventilation was secured and the anesthesia was maintained with oxygen 2 l / min , nitrous oxide 2 l / min , and sevoflurane 2 vol% . after placing the patient in a lithotomy position , a pelvic examination and transvaginal ultrasound were performed , which indicated cervical myoma and uterine didelphys . ventilation with 100% oxygen and 5 vol% sevoflurane was set and 40 mg of rocuronium was administered . after confirming muscle relaxation , endotracheal intubation was performed under a direct laryngoscope . on laryngoscopy , the oral cavity was not narrow , but the larynx was set high to the anterior position , and was classified as grade 2 according to the cormack - lehane 's classification of direct laryngoscopy grades , in that the anterior portion of the glottis was not visible and only the posterior commissure of the glottis was seen . an endotracheal tube with an internal diameter of 7.0 mm was intubated at the first attempt . anesthesia was maintained with oxygen at 2 l / min , nitrous oxide at 2 l / min , and sevoflurane 2 vol% , and the ventilation was adjusted with a set of 29 - 30 mmhg of end - tidal carbon dioxide tension . the premature atrial beat disappeared after intubation , and a normal sinus rhythm was observed . the intra - operational vital signs were maintained within the normal limits with a blood pressure , heart rate and pulse oxygen saturation of 100 - 120/65 - 80 mmhg , 80 - 100 beats / min and 99 - 100% , respectively . as a post - operational procedure , muscle relaxation was reversed with an injection of 15 mg of pyridostigmine and 0.4 mg of glycopyrrolate . the premature atrial beat recurred after extubation but the other vital signs showed normal findings . the total length of time for anesthesia was 2 hours and 10 minutes , and maintenance fluid during operation included 700 ml of hartmann solution , 300 ml of a normal saline solution , and 2 units of packed red blood cells . in the post - anesthesia recovery room , 50 g of fentanyl was administered for pain control , while the vital signs were normal except for a premature atrial beat on the electrocardiogram . the patient was monitored for 40 minutes and then transferred to the ward . on the post - operative day 5 , she was discharged home without complications . in 1965 , victor dubowitz first described the congenital abnormalities of a 13-year - old english girl with intrauterine growth retardation , primordially short stature , skin rash , microcephaly , mental retardation , etc . in 1971 , grosse et al . the clinical characteristics include growth retardation ( intrauterine or postnatal ) , mental retardation , behavior disorders ( extreme shyness , hyperactivity ) , high - pitched voice , eczema , etc . whereas the characteristic facial appearances involve microcephaly , triangular shaped face , sparse hair and eyebrows , sloping forehead , small palpebral fissures , bilateral ptosis , epicanthus , broad and flat nasal bridge , submucous cleft palate , micrognathia , and receding chin , etc . systemically , patients with dubowitz syndrome are vulnerable to infection , and this syndrome is sometimes accompanied by cardiovascular , gastrointestinal , urogenital , endocrinological , neurological , or musculoskeletal disorders . , this disease has been reported in south and north america , europe , asia including the middle east , etc . having diverse clinical symptoms , this disorder has been identified as a complicated syndrome with diverse expressions of the genotype . under the hypothesis of an unstable chromosome , more than two thirds of patients underwent chromosome analysis , but no particularly abnormal findings have been discovered . the karyotype studied until today is normal and the precise pathology of dubowitz syndrome is unknown . clinical observation of the characteristic appearance , behavior patterns , and accompanied disorders pointing to a diagnosis is the only resort available . among the various clinical features of patients with dubowitz syndrome relevant to anesthesia , dubowitz syndrome may be accompanied by a range of craniofacial such as a cleft palate , micrognathia , receding chin , dental malocclusion , etc . and swartz et al . reported a case of craniocervical conjugated deformity , in which a dubowitz patient showed cervical stenosis , subluxation of c1 due to occipital condyle aplasia , complete dislocation of c1 due to dysplasia of the occipital condyle and cervical vertebra , etc . patients with such deformities might be confronted with danger in airway management including mask ventilation , endotracheal intubation , etc . therefore , it is essential to make a pre - anesthetic precise evaluation and establish an appropriate anesthetic plan . on the pre - anesthetic visit , our patient showed flexibility on neck movement , which excluded the possibility of craniocervical malformation . she was class 1 according to the modified malampatti classification , and had micrognathia and an irregular tooth structure . general anesthesia using mask ventilation was scheduled , considering the necessity to prepare for unexpected difficulty in airway management , the short length of the prearranged examination , and the purpose of anesthesia restricted for diagnosis , which did not require muscle relaxation . a laryngeal mask airway and fiberoptic bronchoscope were prepared for immediate use in the case of a failure in airway management . the obstruction of the upper airway upon mask ventilation was assumed to be an obstruction of the oropharynx due to a posterior displacement of the tongue , which was relieved by the oral airway for mask ventilation to resume to normal . after both the pelvic examination and vaginal sonography had been performed under general anesthesia using mask ventilation , the patient was diagnosed with uterine didelphys associated with a cervical myoma . general anesthesia using endotracheal intubation was required for the anesthetic option . considering that mask ventilation was available , on laryngoscopy , the oral cavity was not narrow , and was evaluated as grade 2 according to the laryngeal view classification by cormack - lehane , where the larynx was set so high to the anterior that the anterior portion of the glottis was not observed and only the posterior commissure of the glottis was visible . another concern to consider with relation to airway management is the muscular hypotonia found in some dubowitz patients . in addition to the residual anesthetic effect , the symptom may have an effect on post - operative airway management and respiratory function . our patient did not show any abnormal findings in muscle tone on the pre - anesthetic visit and her respiratory function returned to normal after surgery . for patients with suspected hypotonia , it is essential to conduct a pre - operative test of the muscle tone and evaluate the respiratory function while carefully choosing muscle relaxation and monitoring the muscle tone during surgery . gastro - esophageal reflux disease that might be present in some dubowitz patients   should also be taken into consideration for anesthetic management . on general anesthesia for patients with gastro - esophageal reflux disease , it would be appropriate to administer metoclopramide or h2 receptor blockers pre - anesthetically , to prevent pulmonary aspiration by applying cricoid pressure on mask ventilation , and to refrain from using a laryngeal mask . in the present case , there were no abnormalities indicating gastro - esophageal reflux disease on the pre - anesthetic evaluation , and anesthetic management was carried out without special preparations against its development . in retrospect , it would be wise and important to anticipate the presence or absence of gastro - esophageal reflux disease , which is not uncommon in dubowitz syndrome , and to make plans for anesthesia . several cardiovascular disorders reported in some dubowitz patients involve ventricular septal defects , patent ductus arteriosus , atrial septal defect , and aortic stenosis , etc . in addition , abnormalities of tachycardia that defy understanding and right ventricular hypertrophy have been reported . described a case of a 19-year - old male patient with a myocardial infarction caused by coronary arterial stenosis . in the present case , the electrocardiogram on pre - anesthetic evaluation revealed a premature atrial beat that did not affect her vital signs before and after surgery . to prepare for an encounter of any cardiovascular disorders not detected on pre - anesthetic evaluation of dubowitz patients , close history taking on the cardiovascular system and supplementary tests should include electrocardiogram , 24-hour holter monitoring , echocardiography , stress test , etc . some patients of dubowitz syndrome have been reported to show an abnormal immunological reaction due to a susceptibility to inhaled or dietary allergens that cause eczema , atopic dermatitis , asthma , etc . our patient had a history of atopic dermatitis and showed an abnormality of severe eczema on the body and limbs , which indicated an abnormal immunological reaction . nevertheless , she underwent surgery uneventfully without showing a specific allergic reaction to the inter - operatively used anesthetic gas or medication . dubowitz patients also vulnerable to infections , and malignant blood dyscrasia , such as acute lymphoblastic leukemia , non - hodgkin lymphoma , etc . , are not rare . in particular , they are susceptible to respiratory infections . a certain number of musculoskeletal deformity cases have also been observed , including delayed skeletal maturation , craniosynostosis , pectus excavatum , joint hyperextensibility , 5 finger clinodactyly , 2 - 3 toe syndactyly , etc . in conclusion , general anesthesia was performed uneventfully in the anesthetic management of a dubowitz patient , except for some difficulty in an early attempt of mask ventilation . this case report suggests that for anesthetic management of patients with dubowitz syndrome , a thorough pre - anesthetic evaluation , such as indirect laryngoscopy and cervical x - ray , should be performed with an anesthetic plan to secure safe airway management and prepare for possible airway management difficulties due to the craniofacial and craniocervical abnormalities . furthermore , in order to achieve safe and efficient anesthetic management , it might be necessary to pay close attention to the patient , even in recovery , considering any possible systemic complications occurring during and after surgery .
dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation ( intrauterine , postnatal ) , mental retardation , a peculiar face , microcephaly , behavioral problems and eczema . 
 the peculiar face of individuals with dubowitz syndrome includes sparse hair and eyebrows , low - set ears , blepharophimosis , bilateral ptosis , a flat nasal bridge with a broad nasal root and micrognathia . 
 airway management of such individuals might be difficult due to craniofacial anomalies , such as micrognathia , cleft palate , tooth problems and craniocervical anomalies . 
 in addition , anesthetic management may be complicated by other systemic illnesses . 
 we report the uneventful anesthetic management of a 16-year - old girl with dubowitz syndrome who underwent a total abdominal hysterectomy after a pelvic examination under general anesthesia . 
 we report this case of dubowitz syndrome with a review of the relevant literature .