A Filipino child with schinzel-giedion syndrome

@#Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.

Sirenomelia

Sirenomelia is a rare and fatal congenital defect characterized by varying degrees of lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary, and anorectal atresia. We report a case of baby, born with narrow chest, bilateral hypoplastic thumb, fused lower limbs with a single foot and 5 toes, absent external genitalia, imperforate anus and umbilical cord with single umbilical artery. When diagnosed antenatally, termination should be offered

Case report of intellectual developmental disorder with dysmorphic facies and behavioral abnormalities due to FBXO11 gene mutation / 中华实用儿科临床杂志

A retrospective analysis was performed on the clinical data of a case of intellectual developmental disorders with dysmorphic facies and behavioral abnormalities admitted in the Department of Neurology and Endocrinology, Children′s Hospital Affiliated to Shandong University in February 2020.The proband was a 3 years and 6 months old boy, who was hospitalized because of " convulsions for more than 1 year" . Physical examination revealed facial deformities.Gesell developmental schedule showed that adaptive and gross motor behavior development was severely retarded, and fine motor, language and personal-social behavior development was moderately retarded.Brain magnetic resonance imaging suggested schizencephaly.Electroencephalogram results indicated extensive discharges mainly in bilateral anterior head areas, and one myoclonic seizure was detected.Gene detection results disclosed the pathogenic variation of the proband, which was a heterozygote mutation (c.2480_2484del) in FBXO11 gene.High-throughput sequencing technology increases the possibility of identifying potential genetic mutations as the cause of disease.Patients with recurrent seizures, multi-malformation and general developmental delays should undergo gene detection in time to clarify the etiology.This technique can guide prenatal diagnosis and genetic counseling.

Case report of intellectual developmental disorder with dysmorphic facies and behavioral abnormalities due to FBXO11 gene mutation / 中华实用儿科临床杂志

A retrospective analysis was performed on the clinical data of a case of intellectual developmental disorders with dysmorphic facies and behavioral abnormalities admitted in the Department of Neurology and Endocrinology, Children′s Hospital Affiliated to Shandong University in February 2020.The proband was a 3 years and 6 months old boy, who was hospitalized because of " convulsions for more than 1 year" . Physical examination revealed facial deformities.Gesell developmental schedule showed that adaptive and gross motor behavior development was severely retarded, and fine motor, language and personal-social behavior development was moderately retarded.Brain magnetic resonance imaging suggested schizencephaly.Electroencephalogram results indicated extensive discharges mainly in bilateral anterior head areas, and one myoclonic seizure was detected.Gene detection results disclosed the pathogenic variation of the proband, which was a heterozygote mutation (c.2480_2484del) in FBXO11 gene.High-throughput sequencing technology increases the possibility of identifying potential genetic mutations as the cause of disease.Patients with recurrent seizures, multi-malformation and general developmental delays should undergo gene detection in time to clarify the etiology.This technique can guide prenatal diagnosis and genetic counseling.

Caracterização hidrogeoquímica de águas subterrâneas utilizadas para abastecimento público na porção nordeste do Sistema Aquífero Guarani / Hydrogeochemical characterization of groundwater for public supply in the Northeastern portion of the Guarani Aquifer System

RESUMO O Sistema Aquífero Guarani (SAG) compreende um dos mais importantes aquíferos do mundo, tanto pela grande reserva quanto pela qualidade de suas águas subterrâneas. Entretanto, nem todas as regiões, nas quais o SAG é utilizado no abastecimento público, possuem estudos a respeito do quimismo de suas águas e de sua associação com a geologia. Este trabalho apresenta a caracterização hidrogeoquímica das águas subterrâneas do SAG utilizadas no abastecimento público em São Carlos, São Paulo, região nordeste do SAG, por meio de amostras provenientes de 27 poços tubulares profundos. A captação de água subterrânea é proveniente principalmente do SAG. Entretanto, também é possível verificar a presença das formações Botucatu, Piramboia, Serra Geral, Itaqueri, Adamantina e sedimentos cenozoicos. Apesar de pouco mineralizadas, verifica-se variabilidade iônica na composição das águas subterrâneas, evidenciada na distribuição espacial da condutividade elétrica na área de estudo. Os resultados hidroquímicos apontam para a existência de quatro fácies hidroquímicas: bicarbonatadas mistas, bicarbonatadas cálcicas, bicarbonatadas sódicas e sódica fluoretada, em ordem decrescente de representatividade. A heterogeneidade geológica interfere na concentração de íons na água, por meio da dissolução mineral, e possibilita a mistura das águas subterrâneas. A análise de componentes principais constatou que 62,7% da variabilidade total do conjunto amostral é explicada, principalmente, por dois fatores. O primeiro grupo de variáveis representa 38,7% da variabilidade, atribuída principalmente aos íons provenientes da dissolução de minerais (HCO3−, Ca2+, Na+, Mg2+) e aos parâmetros relacionados a esse processo (pH e condutividade elétrica). O segundo revelou 24% da variabilidade total, que pode estar associado a origens antrópicas, como a presença dos íons Cl−, N-NO3−, SO42-, F− e K+.

ABSTRACT The Guarani Aquifer System (GAS) comprises one of the most important aquifers in the world due to its large water reserve and its groundwater quality. However, some regions that comprise the GAS groundwater for human supply are not thoroughly characterized on water chemistry and its relation with the local geology. This work presents the hydrogeochemical characterization of groundwater from the northeast region of the GAS used for human public supply in São Carlos (São Paulo, Brazil) based on samples from 27 deep boreholes. The groundwater exploration occurs mainly from GAS. However, it is also possible to verify the presence of the Botucatu, Piramboia, Serra Geral, Itaqueri, Adamantina, and Cenozoic sediments. Although little mineralized, there is a large ionic variability in the groundwater composition, also evidenced by spatial distribution of the electrical conductivity in the research area. These results explain four hydrochemical water types: mixed bicarbonate; calcium bicarbonate; sodium bicarbonate; and sodium fluoride, in decreasing order of representativeness. The concentration of ions in groundwater reflects the geological heterogeneity, through mineral dissolution and possible groundwater mixing. A Principal Component Analysis demonstrated that 62.7% of the total sample set variability is explained by two main factors. The first one represents 38.7% of the variability; mainly attributed to ions from minerals dissolution (HCO3−, Ca2+, Na+, Mg2+) and parameters related to this process (pH and electrical conductivity). The second group showed 24.0% of the total variability, which may be associated with anthropic activities origins, such as the presence of Cl−, N-NO3−, SO42-, F−, and K+.

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early diagnosis and treatment can greatly improve the quality of life in these children. In this study we studied 46 MPS patients diagnosed on enzyme and/or DNA testing and we found that the MPS II was the most common type followed by MPS I and MPS IVA. While the mean age of onset of symptoms was 12 months, the mean age at diagnosis was 4.5 years, a significant delay. One of major presenting features was recurrent respiratory problems, more prevalent in MPS II cases. Many patients also had short stature and contractures. Increasing awareness among physicians is of paramount importance for the early diagnosis and optimal treatment and prevention by prenatal testing and counselling.

Neonatal tricho-hepato-enteric syndrome caused by SKIV2L gene mutation: a case report / 中华围产医学杂志

We here report the diagnosis and treatment of tricho-hepato-enteric syndrome in a female neonate. The 11-day-old patient, born at a gestational age of 38 weeks and with a birth weight of 1 700 g, was admitted to the Affiliated Hospital of Jining Medical University in January 2019 due to "skin stained yellow for 6 d". She presented with yellow, thin, and sparse hair that was easy to fall off, intractable diarrhea, repeated fever, and slow weight gain, further complicated by congenital heart disease. After 25-days of treatment, the child's infection was under control, but still had diarrhea. The baby girl was discharge later on request of her parents, but readmitted at the age of 3 months due to pulmonary infection. Delayed development, malnutrition, prominent forehead, wide eye distance, low nasal bridge, hepatomegaly, and intractable diarrhea were also observed. Whole exome sequencing identified a homozygous mutation of c.2344delC(p.His782fs) in SKIV2L gene in the baby, and both her parents were heterozygous carriers of the mutation at this site. She was diagnosed with SKIV2L gene mutation-induced tricho-hepato-enteric syndrome. The patient suffered from sustained diarrhea and recurrent infection and died of infection at 4 months of age after her parents' decision to withdraw treatment.

Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

Objective: To assess the utility of computer-aided facial analysis in identifying dysmorphicsyndromes in Indian children. Methods: Fifty-one patients with a definite molecular orcytogenetic diagnosis and recognizable facial dysmorphism were enrolled in the study andtheir facial photographs were uploaded in the Face2Gene software. The results provided bythe software were compared with the molecular diagnosis. Results: Of the 51 patients, thesoftware predicted the correct diagnosis in 37 patients (72.5%); predicted as the first in thetop ten suggestions in 26 (70.2%). In 14 patients, the software did not suggest a correctdiagnosis. Conclusions: Computer-aided facial analysis is a method that can aid indiagnosis of genetic syndromes in Indian children. As more clinicians start to use thissoftware, its accuracy is expected to improve.

Sirenomelia, the mermaid baby: a case report

Sirenomelia sequence or mermaid syndrome is a rare congenital structural anomaly characterized by different degrees of fusion of lower limbs, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and anorectal atresia. The incidence of sirenomelia is 0.8-1 cases/ 105 births with male to female ratio being 3:1. A malformations patient with 40 weeks of gestation admitted with complaints of decreased fetal movements for one week. An emergency C-section was done in view of term pregnancy with severe oligohydramnios and intrauterine growth restriction with poor bishop’s score. A 1.9 kg live baby with fused lower limbs was delivered. The new born baby had narrow chest, fused both lower limbs and feet with 11 toes, small rudimentary external genitalia, imperforate anus and single umbilical artery. The baby also had features of potter’s facies including low set large ears, receding chin and prominent infraorbital folds. Sirenomelia is a rare fatal congenital anomaly. Early detection by prenatal ultrasound will help in timely termination of pregnancy.

Diagnóstico de lepra en una comunidad ecuatoriana / Diagnosis of leprosy in an Ecuadorian community

Introducción: La lepra es una infección bacteriana compleja causada por el bacilo Mycobacterium leprae, puede causar discapacidad, afecta principalmente a la piel, los nervios periféricos, la mucosa de las vías respiratorias superiores y los ojos. Caso clínico: Paciente de 22 años de edad, con enfermedad de Hansen, facie Leonina, con lesiones nodulares diseminadas en la cara de color violáceo, deformidades en ambas manos, nódulos en ambos brazos y pies y pérdida de la sensibilidad superficial y profunda. Conclusiones: En el Ecuador la Lepra puede ser calificada como de baja endemia, la tasa de detección han ido descendiendo progresivamente en los últimos diez años(AU)

Introduction: Leprosy is a complex bacterial infection caused by the Mycobacterium leprae bacillus. It can cause disability and mainly affects the skin, the peripheral nerves, the mucosa of the upper respiratory tract and the eyes. Case report: 22 years patient with Hansen's disease, Leonine facies, with purplish colour nodular lesions spread out in the face, deformities in both hands, nodules in both arms and feet, and loss of superficial and deep sensitivity. Conclusions: In Ecuador leprosy can be qualified as low endemicity. The detection rate has been falling progressively over the past ten years(AU)

Potter’s syndrome: a case report

Potter’s syndrome is a rare congenital disorder characterized by characteristic atypical appearance of a newborn due to the oligohydroamnios experienced during the intrauterine life. Its incidence varies from 1 in 2000 to 1 in 5000. 40 years old G7P4L1 A2 at 37 weeks of period of gestation was admitted at a tertiary care institute with labour pains. Her previous obstetric history included three full term vaginal deliveries, two of the babies expired in postnatal period of 2 months and 7 days age respectively. One was alive and healthy. In fourth pregnancy she underwent emergency LSCS, but baby expired 5 months after birth. She had history of 2 abortions which were spontaneous and not followed by curettage. She also gave history of intake of some drugs at 6th week of gestation prescribed by a local Baba to have a male child. Her ultrasonography revealed fetus with bilateral renal agenesis. On per abdomen examination, clinically liquor was very much reduced, Fetal heart sounds were not heard. She delivered vaginally a still born fetus with ambiguous genitalia, anal atresia and malformed limbs. The fetus had typical facial appearance of “potter facies”. Potter’s Syndrome or Sequence is a rare fatal disorder. Apart from typical Potter’s facies, pulmonary hypoplasia, skeletal deformities are associated with this condition, severity depends on the degree and duration of oligohydramnios. Therefore, it is very important to pick up this condition during antenatal ultrasound at earlier gestation so that timely decision regarding further workup and pregnancy termination can be undertaken. This case report emphasizes upon the importance of regular antenatal check ups and examination in each and every patient as it picks up the suspicious cases which can lead to further workup, definite diagnosis of the condition and timely decision regarding management.

Study of Clinical Spectrum and Factors Associated with Disabilities in Leprosy: A Ten Year Retrospective Analysis

Leprosy/Hansen's Disease (HD) is associated with impairments and disabilities leading to stigma attached to the disease. Our study looks at the clinical spectrum and factors associated with disabilities over a 10 year period. It was a cross sectional retrospective analysis and included 240 patients which were followed in Christian Medical College and Hospital, Ludhiana, a Tertiary Care Hospital in North India. Objective of the study was to assess the pattern, prevalence and risk factors of disabilities in leprosy patients. The findings shows that the overall prevalence of disabilities was 57.9% (n=139) and was more common in males (73.4%). Patients, residents of Punjab had the maximum prevalence of disabilities (37.4%) followed by Bihar (27.3%). The commonest visible disability was madarosis (19.6%) followed by claw hand (12.1%). The maximum prevalence of clawing was noted in patients with BT-HD (31%) followed by TT-HD (27.6%). WHO Grade 1 disability was 24.5% while 60.4% had WHO Grade 2 disability. On multivariate analysis, positive skin smears and presence of lepra reaction at the time of diagnosis were found to be the risk factors associated with disabilities in leprosy. While the magnitude of disabilities in a referral tertiary care settings will not reflect true extent of problem in the community, information is relevant for improving the preventive and management strategies. Even in the post elimination era of leprosy, significant number and types of disabilities still persist. Like the tip of an iceberg, these findings imply that a more vigorous approach towards early and adequate treatment of complications like reactions is the need of the hour. Community based intervention studies in partnership with tertiary care hospitals may be useful in taking appropriate public health measures.

Síndrome Rusell Silver. Presentación de caso / Russell-Silver syndrome. Presentation of a case

RESUMEN El síndrome Russell Silver es una enfermedad genética de baja frecuencia, caracterizada por retardo del crecimiento prenatal y postnatal, dismorfias faciales y digitales, así como asimetría corporal. Se presenta una paciente femenina de dos años de edad, remitida a consulta de Genética Clínica, por retardo en el desarrollo pondoestatural psicomotor, dismorfias faciales y asimetría corporal. Se realizño el diagnóstico clínico de esta afección. Es importante establecer un diagnóstico precoz para la estimulación temprana, seguimiento multidisciplinario y se brindó un adecuado asesoramiento genético a los familiares (AU).

ABSTRACT The Russell-Silver syndrome is a low-frequency genetic disease, characterized by a pre-natal growth retardation and postnatal digital and facial dysmorphia, and also body asymmetry. We present a female patient, aged 2 years, who was remitted to the consultation of Clinical Genetics because of a retardation in the psychomotor, height-weight development, facial dysmorphia and body asymmetry. The disease was clinically diagnosed. It is important to arrive to a precocious diagnosis for the early stimulation, multidisciplinary follow-up and adequate genetic advice to the relatives (AU).

Clinical characteristics and genetic analysis of neonatal asymmetric crying facies / 中国新生儿科杂志

Objective To study the clinical and genetic characteristics of neonatal asymmetric crying facies (ACF).Method From January 2007 to December 2016,clinical data were retrospectivelyreviewed in patients with ACF admitted to Neonatal Unit of Xinhua Hospital.The data included maternalpregnancy and delivery history,clinical manifestation,results of chromosome florescent in situ hybridization(FISH) and gene chip test.Result Among 32 patients with classic ACF,8 were female and 24 weremale.5 cases were one of the twins or muhiplets.16 patients were born from mothers with history ofspontaneous abortion or induced abortion.16 patients presented with ACF on the left side and 16 patients onthe right side.7 patients had single ACF malformation,7 with malformation of another organ,and18 patients with malformation of more than two other organs.Combined malformation included earmalformation in 11 cases,facial malformation in 6 cases,cardiovascular malformation in 19 cases,urinarytract malformation in 3 cases,digestive system malformation in 3 cases,abnormal nervous system image in7 cases,and immune/endocrine system abnormality in 3 cases.10 patients received genetic analysis withFISH and/or gene chip tests and 4 patients had positive results.Among the patients who completed geneticanalysis,8 patients received FISH test and 2 patients had 22q11.2 distal deletion.1 patient hadheterozygous deletion in 22q21 region using gene chip test after he got a negative result with FISH.Amongthe 32 cases,6 patients died until now,among them,5 patients had multi-organ malformation.ConclusionACF is a tiny facial deformity,however it is often associated with other congenital malformations.Earlygenetic detection and systematic multiple malformations screening are particularly important for diagnosis andprediction of prognosis.

Reaction time and attention bias characteristics of patients with first-episode depressive disorder / 中华行为医学与脑科学杂志

Objective To explore the reaction time and attention bias characteristics of patients with first-episode depressive disorder.MethodsTotally 32 patients with first-episode depressive disorder (MD group) and 24 non-depression control participants(NC group) matched with MD group on age,gender and education level were enrolled in the study.The clinical symptoms were assessed by Beck Depression Inventory(BDI).All participants completed a dot-probe task to assess attentional preference for facial stimuli with varying valence (happy,sad and neutral facial expressions).ResultsThe reaction times(RTs) of MD group was longer than that of NC group in the dot-probe task ((468.6±87.7)ms,(451.7±82.5)ms,P<0.01).The four-way ANOVA revealed a significant main effect of prime duration,indicating overall shorter RTs on primes with longer duration ((476.9±88.4)ms vs (456.2±82.7)ms vs (447.7±83.9)ms,P<0.01).Compared with NC group,the scores of attention bias for sad faces were decreased in MD group ((7.43±26.4)ms vs (-4.97±19.5)ms,P<0.05).With the longer duration of presentation,the score of attention maintenance of emotional facies for MD group were increased (happy faces: (-11.0±4.8)ms,(2.2±6.9)ms,(6.1±8.5)ms;angry faces:(-1.6±7.5)ms,(6.5±8.6)ms,(14.9±6.7)ms).The adherence score of attention to happy faces were decreased ((1.8±5.6)ms,(-8.2±6.7)ms,(-8.7±7.1)ms),while the score of adherence score towards sad faces were increased ((-7.6±7.2)ms,(-2.6±8.5)ms,(1.5±6.2)ms) with increasing prime duration.ConclusionPatients with first-episode depressive disorder have slower response to emotional faces and associated with attentional bias for sad faces.With the increasing prime duration,it is more and more obvious to attentional bias in the two aspects of allocation and adherence.

Effect of compound betamethasone injection combined with radiation on keloid in frontal facial region / 中国生化药物杂志

Objective To analysis the effect of compound betamethasone injection combined with radiation on keloid in frontal facial region. Methods 60 cases of keloid patients in zhejiangprovincial people's hospital from January 2014 to January 2016 were selected,all patients were treated with surgery,the patients were randomly divided into observation group and control group,30 cases in each group,radiotherapy was used in the control group,the observation group was treated with local injection of compound betamethasone on the basis of the control group,the therapeutic effects, pain scores, adverse reactions and complications were compared between the two groups. Results The recurrence rate of the observation group was 3.33% which was significantly lower than that of the control group 10%,the improvement rate of the observation group 93.33% was significantly higher than the control group 80%,the difference was statistically significant (P<0.05).one,two and three months after operation,the pain scores in the observation group were significantly lower than those in the control group at the same time point,the difference was statistically significant (P<0.05).The adverse reaction rate was 6.66% (2/30) in the observation group and 23.33% (7/30) in the control group, there was no significant difference between the two groups.The incidences of skin sag, pigmentation, incision delayed union and telangiectasia in the observation group were significantly lower than those in the control group (P<0.05). Conclusion Compound betamethasone injection combined with radiation on the frontal facial keloid patients with significant effect,can significantly reduce the recurrence rate,improve the rate of improvement,reduce pain and complications in patients.

¿Facies o impressio en el bazo? / ¿Facies or impressio in the spleen?

Los principios de Terminologia Anatomica establecieron el uso del latín como idioma oficial, un único nombre por término, otorgar valor descriptivo a los términos y eliminación de epónimos. El avance de las ciencias médicas y su relación con las ciencias morfológicas ha requerido nuevas interpretaciones y modificaciones en relación a los términos anatómicos. En el año 2009 se iniciaron los Simposios Latinoamericano de Terminologia Anatomica, Histologica y Embryologica (SILAT), cuya tarea es revisar las terminologías latinas y sugerir la traducción a los idiomas español y portugués. Realizamos un análisis de los términos latinos Facies e Impressio, que significan cara e impresión, respectivamente. En Terminologia Anatomica latina revisamos los términos Facies renallis (A13.2.01.009), Facies gastrica (A13.2.01.010), Facies colica (A13.2.01.011) del bazo, traducidos al español por la Sociedad Anatómica Española (2001), como impresión renal, impresión cólica, impresión gástrica. Debido a lo anterior, realizamos un estudio de la configuración externa del bazo a través de observación directa y de las descripciones en tratados anatómicos. Identificamos la errada traducción del término Facies como impresión. Basándose en la terminología latina de otras estructuras, referidas anatómica y morfológicamente a la marca o estampado que deja una estructura sobre otra como Impressio, sugerimos cambiar en Terminologia Anatomica los términos Facies renallis, Facies gastrica, Facies colica del bazo por Impressio renalis splenis, Impressio gastrica splenis e Impressio colica splenis. El uso de términos anatómicos correctos permitirá una mejor comunicación en el ámbito de la docencia y la investigación científica.

Terminologia Anatomica principles establish the use of Latin as the official language, one single name per term, provide a descriptive value for terms and eliminate eponyms. The advancement of medical science and its relationship with morphological sciences has made necessary new interpretations and amendments in relation to anatomical terms. In 2009 the Latin American Symposium on Anatomy, Histology and Embryology Terminology (SILAT), whose responsibility is to review Latin terminology and suggest and recommend translation into Spanish and Portuguese, was initiated. We conducted an analysis of Facies and Impressio Latin terms meaning face and printing, respectively. In Latin Terminologia Anatomica we reviewed the terms Facies renallis (A13.2.01.009), Facies gastrica (A13.2.01.010), Facies colica (A13.2.01.011) spleen, translated into spanish by the Spanish Anatomical Society (2001) such as kidney printing, colic printing, gastric printing. In view of the above, we conducted a study of the external configuration of the spleen through direct observation and anatomical description treaties. We identified the mistranslation of the term Facies as a print. Based on the Latin Terminology of other structures, which anatomically and morphologically refer to the mark or indentation of one structure over another as Impressio, we suggest a change in Terminologia Anatomica of the terms Facies renallis, Facies gastrica, Facies colica of the spleen for Impressio renalis splenis, Impressio gastrica splenis and Impressio colica splenis. Using correct anatomical terms allows better communication in the teaching and scientific research fields.

Síndrome de hipoplasia femoral y facies inusual: reporte de un caso / Femoral hypoplasia-unusual facies syndrome: A case report

Introducción: El síndrome de hipoplasia femoral y facies inusual es una enfermedad rara con expresividad hereditaria variable, aunque se han reportado casos con un patrón autosómico dominante. Afecta particularmente las estructuras de la cara asociado a hipoplasia de fémur. Si bien su etiología no ha sido bien identificada, se ha asociado con diabetes materna, exposición a drogas, infecciones virales, radiaciones y oligohidramnios. Objetivo: Presentar el caso de una recién nacida con este síndrome. Caso clínico: Recién nacida de 41 semanas de gestación con nariz pequeña, labio superior delgado, micrognatia, filtrum largo, implantación baja de orejas, epicanto, cadera displásica con flexión y aducción de miembro inferior derecho y acortamiento del mismo a expensas del muslo. En la imagen radiográfica se encontró hipoplasia de fémur derecho con techo acetabular ipsilateral displásico. Se realizó una evaluación completa por distintos especialistas que descartaron otras malformaciones asociadas. Se programó el alargamiento quirúrgico de miembros inferiores a la edad de 5 meses con la finalidad de que deambule con sus propios pies; paralelamente se inició apoyo con kinesiterapia. Conclusiones: El síndrome de hipoplasia femoral y facies inusual es un padecimiento poco frecuente, que implica la participación de un equipo médico multidisciplinario para su manejo.

Introduction: Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. Objective: The case of a newborn with this syndrome is presented. Clinical case: Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. Conclusions: Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.

A Rare Case of Cockayne Syndrome.

Background: Cockayne syndrome is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Case: In this report we present a 24 year old male with decreased height, weight & reduced head circumference measuring 124 cm, 20 kg and 20 cm respectively. Cachectic dwarfism, ataxic gait, mental retardation, sunken eyes, hypoplastic maxilla, and parrot beak shaped nose giving “bird like facies” were other key features observed in our patient. Oral examination revealed congenital missing teeth and multiple dental caries teeth are also seen. Magnetic resonance imaging and computed tomography findings were also contributory to our diagnosis. Conclusion: This case report aims to rekindle and emphasis the diagnostic features of Cockayne syndrome & highlights the role of various investigations done by both medical & dental professionals to diagnose and manage the patient.

A Patient With Coarse Facies And Skin Changes — A Case Report Of Undiagnosed Hansen's Disease Presenting To Primary Care. When Should We Suspect It, And What Should We Do?

A 44-year-old Malay gentleman was seen at the polyclinic on the advice of a medical social worker. He was noted to have coarse facies, extensive skin peeling, and nail deformities in all 4 limbs. He was suspected to have leprosy and referred to the National Skin Centre (NSC) which confirmed the diagnosis of Lepromatous Leprosy by histology. He has shown good progress since starting on a course of treatment. A brief review is presented here as a reminder of the challenges faced in the care of a condition largely forgotten in our highly urbanised setting: Hansen’s disease.