Asociación entre las variantes anatómicas del complejo osteomeatal y patología inflamatoria sinusal: estudio de casos y controles / Association between anatomical variants of the osteomeatal complex and inflammatory sinus pathology: case-control study

Introducción: las variantes anatómicas nasosinusales pueden ser una causa frecuente de infecciones crónicas, y resulta importante identificarlas en la práctica diaria. Objetivo: determinar la asociación entre las variantes anatómicas del complejo osteomeatal (COM) y el desarrollo de patologías inflamatorias nasosinusales. Materiales y métodos: estudio de casos y controles, muestra de 226 pacientes identificando las variantes anatómicas del COM en la tomografía computada (TAC) de senos paranasales (SPN) y su correlación clínica. Resultados: el 51,9 % presentaron hallazgos imagenológicos indicativos de patología inflamatoria nasosinusal y el 19,8 % reportaron sintomatología sugestiva de sinusitis en la historia clínica. Los SPN más afectados fueron: maxilares (46,9 %) y etmoidales (23 %). Las variantes anatómicas más frecuentes fueron las celdillas de Agger Nasi (50,2 %) y la desviación septal (46,2 %). Se encontró como variable estadísticamente significativa la inserción lateral de la apófisis unciforme (p = 0,015) más frecuente del lado izquierdo (p = 0.018, odds ratio [OR] = 4,078, intervalo de confianza [IC] 95 % = 1,3-12,6). Discusión: Se confirmó la incidencia de las variantes anatómicas más frecuentes en la literatura, sin embargo, no se correlacionan con los hallazgos clínicos para la serie de pacientes estudiada en comparación con otros estudios. Existe una alta relación entre la inserción lateral de apófisis unciforme y hallazgos de rinosinusitis escasamente documentados en la literatura médica. Conclusión: se requieren más estudios sobre modelos predictivos en muestras poblacionales mayores y protocolos de lectura TAC enfocados sobre diferentes variantes anatómicas de la apófisis unciforme.

Introduction: Sinonasal anatomical variants can be a frequent cause of chronic in- fections, so it is important to identify them in daily practice. Objective: To determine the association between the anatomical variants of the osteomeatal complex (OCM) and the development of sinonasal inflammatory pathologies. Materials and methods: Case-control study, a sample of 226 patients is analyzed identifying the anatomical variants of OCM in computed tomography of the paranasal sinuses and their clinical correlation. Results: 51.9% presented imaging findings indicative of sinonasal in- flammatory disease, 19.8% reported symptoms suggestive of sinusitis in the clinical history. The most affected paranasal sinuses were: maxillary (46.9%) and ethmoid (23%). The most frequent anatomical variants were Agger Nasi cells (50.2%) and septal deviation (46.2%). The lateral insertion of the uncinate process (p=0.015) was a statistically significant variable, more frequent on the left side (p=0.018, odds ratio [OR]=4.078, 95% confidence interval [CI]=1.3-12.6). Discussion: The incidence of the most frequent anatomical variants in the literature was confirmed, however not correlated with the clinical findings for the series of patients studied in comparison with other studies. There is a high relationship between the lateral insertion of the uncinate process and rhinosinusitis findings that are scarcely documented in the medical literature. Conclusion: More studies are required on predictive models in larger population samples and tomographic reading protocols focused on different anatomical variants of the uncinate process

Prenatal diagnosis of fetal diencephalic-mesencephalic junction dysplasia: a case report / 中华围产医学杂志

We report a case of fetal diencephalic-mesencephalic junction dysplasia (DMJD) diagnosed prenatally. Prenatal ultrasound at 24 gestational weeks showed that the fetus was small, about the size at 22 weeks' gestation, with short biparietal diameter and enhanced echo at the anterior border of thalamus. Fetal MRI showed short T2 signal shadow in the left choroid plexus, and hemorrhage and midbrain dysplasia were suspected. A pathogenic homozygous mutation variant in protocadherins 12 gene (c.1558C>T) was found in this fetus by whole exome sequencing and both parents carried the same heterozygous variation revealed by Sanger sequencing. All of the above information lead to the diagnosis of fetal DMJD, and the pregnancy was terminated after genetic counseling.

Townes-Brocks syndrome caused by de novo mutation in spalt-like transcription factor 1 gene: a case report and literature review / 中华围产医学杂志

Objective:To summarize the clinical features and gene variations in children with Townes-Brocks syndrome (TBS).Methods:The clinical data of a female infant diagnosed with TBS caused by human spalt-like transcription factor 1 ( SALL1) gene mutation in Gansu Maternal and Child Health Hospital in May 2022 were analyzed retrospectively. Relevant articles up to July 2022 were retrieved from several databases including CNKI, VIP, Wanfang, Chinese Medical Journal Network and PubMed with the terms of " SALL1 gene" and "Townes-Brocks syndrome". Patients diagnosed with TBS caused by SALL1 gene mutation were retrieved and the clinical phenotype-genotype correlations in patients with TBS caused by frameshift mutation in SALL1 gene were analyzed and summarized. Descriptive statistical analysis was applied. Results:(1) Clinical data: The index patient was a 40-day-old girl exhibiting major clinical manifestations of polycystic kidney dysplasia, congenital external ear deformity, preaxial polydactyly and recto-perineal fistula. Whole exome sequencing and Sanger sequencing revealed a heterozygous variation of c.420delC (p.S141fs*42) in the SALL1 gene, while the same gene was found to be wild type in her parents and sister. The variant was predicted to be pathogenic (PVS1+PS2+PM2). (2) Literature review retrieved 161 cases of TBS, of which 71 were attributable to a frameshift mutation in SALL1 gene. Clinical phenotypes of the 71 cases and the index case were summarized. TBS was mainly characterized by external ear, hand and anal deformities, sometimes accompanied by hearing loss, abnormal kidney development and foot deformity. A small number of affected cases presented with rare clinical phenotypes such as abnormal eyes, hypothyroidism and abnormal development. At present, the human gene mutation database records 110 variations in the SALL1 gene, with a majority located in exon 2. The most common mutation type was frameshift variation, accounting for 52%, followed by missense variation and nonsense variation. Conclusion:TBS should be considered in children with ear, hand and anal malformations, accompanied by renal dysfunction and hearing loss, and genetic testing is recommended for timely diagnosis.

Prenatal diagnosis of fetal ZTTK syndrome: a case report / 中华围产医学杂志

This article reported the prenatal diagnosis of a fetus with ZTTK syndrome. A pregnant woman underwent preimplantation genetic diagnosis because her partner carried a balanced chromosomal translocation. Chromosomal karyotype analysis and copy number variation sequencing (CNV-seq) performed on amniocytes collected at 18 + weeks of gestation revealed no abnormalities. Ultrasonography performed at 23 +5 and 26 +3 weeks of gestation revealed severe fetal growth restriction, cerebellar dysplasia, poorly visualized sacrum and coccyx, and spina bifida. MRI of the fetal brain showed that the bilateral cerebellar hemispheres of the fetus were small and the cisterna magna was large at 23 +6 weeks of gestation. Whole exome sequencing in the pedigree identified a heterozygous variant c.2092delG (p.Glu698fs*4) in the exon 3 of the fetal SON gene, which was not inherited from the parents and proved to be a de novo mutation. Mutations in the locus are pathogenic, causing ZTTK syndrome. After genetic counseling, the pregnant woman and her family chose to terminate the pregnancy.

Prenatal ultrasonographic characteristics and prognosis of fetal umbilical-portal-systemic venous shunt: analysis of 14 cases / 中华围产医学杂志

Objective:To summarize the prenatal ultrasonographic features and prognosis of fetal umbilical-portal-systemic venous shunt (UPSVS).Methods:This retrospective study retrieved the records of 14 fetuses with UPSVS from Chongqing Health Center for Women and Children from January 2018 to September 2020, to describe their ultrasonographic features, concomitant malformations, chromosomal examination results, and follow-up.Results:All the 14 cases were classified into three types: Type Ⅰ ( n=2), the umbilical vein directly connected to the systemic venous detouring around the liver; Type Ⅱ ( n=2), the umbilical vein connected to the distal inferior vena cava instead of the left atrium after entering the liver through the ductus venosus; and Type Ⅲa ( n=10), those with an intrahepatic shunt, between the intrahepatic portal venous system and the hepatic vein. Of the 14 fetuses, 11 had normal chromosome test results, including four had serum screening of Down syndrome in the first trimester, four had non-invasive prenatal testing, and three had prenatal genetic diagnosis. Six cases were complicated by other system malformations. Fetal growth restriction and heart failure were found in four cases each. Four pregnancies were terminated due to other anomalies and the other 10 ended in live births with good prognosis for the fetuses. Conclusions:Special attention should be paid to the fetal umbilical- portal-venous system when there are unexplained fetal growth restriction, fetal heart failure, or abnormal blood vessels in the abdominal section of the fetus. UPSVS has typically ultrasonographic features, which can prenatally determine the shunt type and the integrity of the intrahepatic portal venous system. A full assessment of the intrauterine fetal condition and other malformations are of great value in prognostic counseling.

Prenatal diagnosis of Joubert syndrome caused by de novo mutations of CPLANE1 gene / 中华围产医学杂志

We report a case of fetal cerebellar vermis dysplasia diagnosed prenatally by ultrasonography. Ultrasonography of the 27-year-old woman at 20 +6 gestational weeks revealed partial separation of the cerebellar vermis (Dandy-Walker variants), unclosable upper and lower lips, and polydactyly, based on which a preliminary diagnosis of multiple fetal malformations was made. Karyotype and chromosomal microarray (CMA) analysis of the amniotic fluid showed no abnormality. After genetic counseling, amniocentesis was performed again for a whole-exome sequencing test. The results suggested that there are compound heterozygous variations of c.3435G>A(P.W1145X) and c.2941C>G(p. p981A) in the exon 19 and exon 17 of the CPLANE1 gene, which were both de novo mutations and inherited from the father and mother, respectively. The fetus was diagnosed as Joubert syndrome. Given the facial and limb deformities and a significant risk of neurological abnormalities of the fetus, the patient and her family decided to terminate the pregnancy.

Sonographic features of Joubert syndrome in first or second trimester: report of two fetuses / 中华围产医学杂志

We report two cases of Joubert syndrome initially tentatively diagnosed by prenatal ultrasound in the first or second trimester which were thereafter confirmed by whole exome sequencing (WES). Case 1 was one of the twins who presented with increased intracranial transparency (IT) and thinner brainstem at 12 +1 gestational weeks. Ultrasound at 18 +2 weeks found multiple intracranial malformations, "molar tooth sign (MTS)" at the midbrain-hindbrain junction level in the cerebral cross section, and bilateral ventriculomegaly. Enlarged and echogenic kidneys and oligohydramnios were also detected. In case 2, ultrasound image at 17 +5 weeks of gestation indicated multiple intra-and extra cranial and extracranial malformations, MTS in the midbrain-hindbrain junction plane, bilateral ventriculomegaly, unclear cavum septum pellucidum. Extracranial anomalies were bilateral multicystic enlarged kidneys, invisible bladder, and oligohydramnios. Both fetuses underwent amniocentesis, which showed normal karyotype and no copy number variation was detected. However, variation of the TMEM67 gene (c.312+5G>A at introns 2 and c.1175C>G at exon12) was detected in both fetuses by WES, supporting the diagnosis of Joubert syndrome. Selective reduction and termination of pregnancy were performed on case 1 and case 2 at 18 +5 and 19 weeks of gestation, respectively.

Neonatal lateral meningocele syndrome: report of a case and literature review / 中华围产医学杂志

Objective:To investigate the clinical characteristics and pathogenic gene mutation of lateral meningocele syndrome(LMS).Methods:We retrospectively collected the clinical manifestations, laboratory examination, imaging examinations, and genetic analysis of a neonate with LMS which was diagnosed at the Department of Neonatology of the Second Affiliated Hospital of Wenzhou Medical University in May 2020. Relevant literature up to February 2021, retrieved from PubMed, OMIM, CNKI, Wanfang, and CQVIP database with the terms of "lateral meningocele syndrome", " NOTCH3", were reviewed to summarize the clinical characteristics, pathogenesis, and genetic etiology of this disease. Results:A full-term male newborn was admitted to our hospital due to feeding difficulty 7 d after birth. The clinical characteristics included hypotonia, dysphagia, hypertension, lateral spinal meningocele, craniofacial anomaly, and cryptorchidism. Abnormal spinal MRI and brainstem evoked potential were also observed. Whole exome sequencing revealed a heterozygous frameshift variation c.6667_6686del(p.Ala2223Profs*12) of NOTCH3 gene located in 19p13.12, which was not detected in the parents. Only 12 English literature were retrieved, with 17 patients from 15 pedigrees. Out of the 18 patients including the index case, 10 were genetically diagnosed as LMS. The age at diagnosis ranged from 15 d to 55 years. Regarding the clinical features, multiple lateral thoracolumbar spinal meningoceles (18/18) was the most common one, followed by retrognathia and low-set ears (16/18), eyelid ptosis and down slanting palpebral fissures (15/18), hypotonia (13/18), hypertension (11/18), developmental delay (9/18), mixed or conductive hearing loss (9/18), cardiovascular dysplasia (7/18), and cryptorchidism (7/10). A total of nine NOTCH3 gene variants were detected, all were heterozygous variants, including six frameshift and three nonsense variants. Conclusions:LMS is caused by NOTCH3 gene mutation with the clinical characteristics including multiple lateral thoracolumbar spinal meningoceles, craniofacial dysmorphisms, hypotonia, hypertension, developmental delay, difficulty in feeding, cryptorchidism, etc.

Amniotic band syndrome: a case report / 中华围产医学杂志

A case of amniotic band syndrome (ABS) was reported here. No obvious fetal abnormality was revealed by systematic ultrasound at 22+4 weeks of gestation. At 30 weeks of gestation, the pregnant woman was found to have excessive amniotic fluid and possible fetal edema according to ultrasound images and admitted to the First Affiliated Hospital of Nanjing Medical University. After admission, she received diet control to lower blood glucose and amniotic fluid reduction. The dynamic amniotic fluid index was measured by ultrasound, and the electrical fetal heart rate was monitored daily. Since 32 weeks of gestation, progressive reduction in fetal movement with sinusoidal fetal heart rate pattern was observed. An emergent cesarean section was performed due to fetal distress at a gestational age of 32+3 weeks. During the operation, a porous amniotic membrane was found, from the umbilical cord insertion of the placenta to the ankle of the left lower limb of the fetus. Amniotic band constricting left ankle of newborn and the edema of the left foot was obvious, then ABS was diagnosed. This amniotic band affected the left foot of the fetus directly, while there was not enough evidence whether the flake amniotic membrane near the umbilical cord insertion of the placenta could affect the fetus. This premature infant died of neonatal asphyxia 24 hours after birth.

Amniotic band syndrome: a case report / 中华围产医学杂志

A case of amniotic band syndrome (ABS) was reported here.No obvious fetal abnormality was revealed by systematic ultrasound at 22+4 weeks of gestation.At 30 weeks of gestation,the pregnant woman was found to have excessive amniotic fluid and possible fetal edema according to ultrasound images and admitted to the First Affiliated Hospital of Nanjing Medical University.After admission,she received diet control to lower blood glucose and amniotic fluid reduction.The dynamic amniotic fluid index was measured by ultrasound,and the electrical fetal heart rate was monitored daily.Since 32 weeks of gestation,progressive reduction in fetal movement with sinusoidal fetal heart rate pattern was observed.An emergent cesarean section was performed due to fetal distress at a gestational age of 32+3 weeks.During the operation,a porous amniotic membrane was found,from the umbilical cord insertion of the placenta to the ankle of the left lower limb of the fetus.Amniotic band constricting left ankle of newborn and the edema of the left foot was obvious,then ABS was diagnosed.This amniotic band affected the left foot of the fetus directly,while there was not enough evidence whether the flake amniotie membrane near the umbilical cord insertion of the placenta could affect the fetus.This premature infant died of neonatal asphyxia 24 hours after birth.

Neonatal Kabuki syndrome: a report of two cases / 中华围产医学杂志

This paper reported the diagnosis and treatment of two neonates with Kabuki syndrome (KS).Neither of them had typical facial features of KS during the neonatal period,but poor response,abnormal appearance and multiple organ dysplasia were observed in both.Case 1 was lost to follow up after discharge,while typical KS facial features were gradually appeared in Case 2 including eversion of lower lateral eyelids,arched eyebrows,sparse eyebrow arch,flattened nasal tip,prominent ears,during a three-month follow-up after birth.Next-generation sequencing revealed that both neonates were KS caused by lysine methyltransferase 2D (KMT2D) gene mutation,of which case 1 had a heterozygous deletion mutation ofc.13895delC (p.P4632HfsTer8) in KMT2D gene,while case 2 had a heterozygous repeat mutation of c.12809dupA (p.T4271Dfs*63) in KMT2D gene.Both cases were defined as de novo mutations and the one carried by case 2 was a newly discovered pathogenic mutation.

Prenatal diagnosis of mosaic trisomy 2: a case report / 中华围产医学杂志

We reported a case of mosaic trisomy 2.The patient was a 29-year-old gravida who underwent amniocentesis at 20 weeks of gestation because of high risk of trisomy-21 in the first trimester screening.The test result revealed a karyotype of 47,XN,+2[10]/46,XX[40].At 26 gestational weeks,the fetus was found severe fetal growth restriction and oligohydramnios which was considered to be at risk of mosaic trisomy 2.The pregnancy was terminated at 27+ gestational weeks.The fetus had obviously abnormal appearances,including dolichocephaly,low-set ears,and micromandible.Autopsy was not performed due to the parents' refusal.

Perceived and Normative Needs of Facial Cleft Patients Seen in Nigeria

Objective: To evaluate the pattern of presentation and assessing treatment needs of children with facial clefts. Material and Methods: This was a cross sectional study of 49 patients seen at the cleft clinic of Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife for a 39-month period of study. Data collected were patient's bio-data including age, date of birth, sex, social class, age of parents, dental findings, associated malformations, treatment given and referral using an interviewer-administered questionnaire. Data was analyzed using the Statistical Package for Social Sciences. Frequency distributions were carried out for all variables and the Pearson Chi-Square Test was applied to assess the significance of differences between groups at a p value of 0.05. Results: Cleft lip and palate had the highest preponderance 23 (47.0%) followed by cleft lip 14 (28.6%) and cleft palate 12 (24.5%). There were more females 28 (57.14%) than males 21 (42.9%) at male to female ratio of 3: 4, though; it was not statistically significant (p-0.73). Most of the patients (73.5%) belong to the low social class. The high social class had 13 (26.5%) cases. Conclusion: The most important treatment needs of cleft patients in this study were: review/follow-up of treatment protocol, oral hygiene instructions, cleft palate repair, cleft lip repair, and referral to the Orthodontist for treatment of varying degrees of malocclusion in descending order. This trend in the treatment needs arose because most of the patients were still ignorant of the implications of managing facial cleft defects through the multi-disciplinary treatment approach.

Clinical characteristics and prognosis of neonatal VACTERL association in 33 cases / 中国新生儿科杂志

Objective To study the clinical characteristics,treatment and prognosis of neonatal VACTERL association.Method The clinical data of newborns diagnosed with VACTERL association from January 2010 to December 2015 were collected and retrospectively analyzed.Result A total of 33 patients diagnosed with VACTERL association were included,including 23 males and 10 females.Among them,17 cases were term infants,15 cases premature infants and 1 case of overdue birth,with an admission age of 1 to 24 days.The most common deformities were cardiac anomalies (C) in 27 cases (81.8％),followed by anal atresia/anorectal malformation (A) in 25 cases (75.8％),renal deformity (R) in 24 cases (72.7％),limb abnormalities (L) in 20 cases (60.6％),Tracheoesophageal fistula (TEF) in 8 cases (24.2％) and vertebral abnormalities (V) in 3 cases (9.1％).11 cases (33.3％) had other deformities.Among these 33 patients,24 cases had 3 types of malformations and 9 cases had 4 types of malformations.The most common combination was ACR (n =8).20 patients had no abnormalites on chromosome karyotype test including 2 patients had normal gene microarray results.16 patients received surgical treatment during neonatal period and 13 of them recovered and discharged.Among the other 17 cases received no surgery,only 1 patient improved and discharged.A telephone follow-up was proceeded in 14 discharged cases at 1 year old.Among them,13 cases had good prognosis,however,the remaining one was dead.Conclusion VACTERL association is a rare non-random combination of multiple malformations.The early discovery and appropriately treatment after diagnosis will improve the prognosis and prevent death.Doctors should reinforce the ability to detect various types of deformities and examine the chromosome and gene properly.

Ventilação mecânica na síndrome de Coffin-Lowry: relato de caso / Mechanical ventilation in Coffin-Lowry syndrome: a case report

RESUMO Descrevemos paciente de 27 anos com síndrome de Coffin-Lowry, com quadro de pneumonia comunitária grave, choque séptico e insuficiência respiratória. Sumarizamos a assistência ventilatória mecânica, bem como o período de internação em unidade de terapia intensiva.

ABSTRACT We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit.

Prenatal Ultrasonic Diagnosis of Pentalogy of Cantrell / 中国医学影像学杂志

PurposeTo explore the value of prenatal ultrasound diagnosis of pentalogy of Cantrell.Materials and Methods A retrospective study was performed in 6 fetuses with pentalogy of Cantrell diagnosed with prenatal ultrasound. The first diagnostic ultrasound time, ultrasound images and follow-up results were reviewed to analyze ultrasonographic features.Results All the fetuses were characterized by omphalocele and ectopic heart. All 6 fetuses were diagnosed by prenatal ultrasound during the first ultrasound screening, of which 5 were diagnosed before 16 weeks of gestation. Five cases were confirmed with induced labor and 1 was confirmed postnataly. The accuracy of prenatal ultrasonic diagnosis was 100%.Conclusion The characteristic features of pentalogy of Cantrell are omphalocele and ectopic heart. Prenatal ultrasound is reliable and valuable to diagnose pentalogy of Cantrell.

Desenvolvimento de um software de auxílio ao diagnóstico clínico em genética / Developing a software for supporting clinical diagnosis in genetic

JUSTIFICATIVA E OBJETIVO: O diagnóstico em genética clínica é extremamente complexo, devido à plêiade de apresen- tações das doenças e à dificuldade de definir uma síndrome a partir dos sinais clínicos observados no paciente. Geneticistas necessitam buscar em livros-textos ou bancos de dados, a par- tir de cada sinal, a doença de que suspeitam. O objetivo deste estudo foi desenvolver um software de inteligência artificial que auxilie no diagnóstico clínico em genética. MÉTODOS: Foram listadas as 200 doenças genéticas mais comuns e, para cada uma, foram elencados até 10 dos principais sinais ou sintomas neces- sários ao diagnóstico. Os dados foram incluídos em um pro- grama com banco de dados, que funciona no Microsoft Office Excel 2007©, por meio do preenchimento de uma ficha de anamnese e exame clínico com mais de 800 cancelas de dados. Após o preenchimento, o software lista as doenças mais prováveis, em ordem decrescente de semelhança com o caso clínico, com valor apresentado em porcentagem. O software foi aplicado em um teste alfa com 58 casos clínicos de diagnósticos concluídos no ambulatório de um serviço. RESULTADOS: No teste alfa, o software ?acertou? os diagnósticos em 74% das vezes e ?errou? em 8,6%. CONCLUSÃO: O software mostrou-se bastante promissor e, aperfeiçoado, deve permitir ao geneticista poupar horas de pesquisa, auxiliando o médico, e não o substituindo. Ainda é necessário o teste beta, preferencialmente interinstitucional.(AU)

BACKGROUND AND OBJECTIVE: Performing a diagnosis in clinical genetics is a highly complex process due to the wide range of different presentation of a single genetic disease and to the difficulty of defining a disease based on the clinical signs of a patient. Specialists must look for each sign in textbooks or databases in order to find the disease they suspect. The objective of this study was to develop artificial intelligence software that support the clinical diagnosis in genetics. METHODS: The 200 most common genetic diseases were listed and the 10 main signs and/or symptoms necessary for the diagnosis were selected for each one of these disease. Data was included in a database program that runs on Microsoft Office Excel 2007©, through the filling of a chart that requires thorough anamnesis and clinical exam with over 800 open spaces for data. After filling, the software lists the most probable diseases in a decreasing order according to its resemblance to the case studied, presenting the findings in a percentage value. The software underwent an alpha testing with 58 clinical cases of defined diagnosed in our service. RESULTS: In the alpha testing, the software was ?accurate? in 74% of the cases, and ?inaccurate? in 8.6%. CONCLUSION: The software has shown to be very promising and, once enhanced, it may save the professional several hours in researching, directing the diagnosis and helping the doctor, rather than substitute the professional. It is still necessary to undergo an inter institutional beta-testing.(AU)

Síndrome de Cohen. Presentación de un caso / Cohen Syndrome. A Case Report

El síndrome de Cohen es una rara enfermedad de origen genético que se transmite con un patrón autosómico recesivo. Se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia cráneofacial típica, así como incisivos centrales grandes y salientes, con dedos finos en forma de huso. Se ha localizado el locus para el síndrome de Cohen en el cromosoma 8q 22 (COH 1). Desde su descripción se reportan pocos casos, su diagnóstico es clínico a través de una delineación correcta del fenotipo. Se presenta una paciente de 14 años de edad afectada con este síndrome, en la que hasta ahora no se había podido llegar al diagnóstico clínico. A esta edad fue que se logró una delineación correcta del fenotipo y por consiguiente el correcto diagnóstico, lo que es de vital importancia para poder brindar un mejor asesoramiento genético a la familia.

Cohen syndrome is a rare genetic disease that is transmitted in an autosomal recessive pattern. It is characterized by obesity, hypotonia, mental retardation, microcephaly, typical craniofacial dysmorphism, large and prominent central incisors as well as thin, spindle-shaped fingers. The locus for Cohen syndrome has been located on chromosome 8q 22 (COH 1). Few cases have been reported since its description, it is clinically diagnosed through a proper delineation of the phenotype. The case of 14-year-old patient with this syndrome in whom a clinical diagnosis had not been established thus far is presented. An accurate delineation of the phenotype was achieved at this age and consequently, the correct diagnosis was reached, which is critical in order to provide better genetic counseling to the family.

Suplantación del ramo superficial del nervio radial por el nervio cutáneo antebraquial lateral / Supplantation of the superficial branch of the radial nerve by the lateral antebrachial cutaneous nerve

Introducción: la inervación sensorial del dorso de la mano proviene principalmente del ramo superficial del nervio radial, pero este territorio puede ser asumido por el nervio cutáneo antebraquial lateral. Objetivo: describir una rara variación anatómica del nervio cutáneo antebraquial lateral, hallada en el anfiteatro del Departamento de Morfología de la Universidad del Valle, en Cali, Colombia. Materiales y Métodos: cadáver masculino, colombiano, disecado por estudiantes de Medicina. Resultados: el ramo superficial del nervio radial estaba ausente y su territorio sensorial había sido asumido totalmente por el nervio cutáneo antebraquial lateral, el cual se prolongaba hasta el dorso de la mano y se dividía en nervios digitales dorsales que alcanzaban el dorso de los dedos pulgar, índice, medio y mitad lateral del anular. Discusión y Conclusiones: por las implicaciones clínico-quirúrgicas que puede tener la distribución de un nervio, es importante conocer con precisión su anatomía normal y sus posibles variaciones y orientarlas al conocimiento de las características morfológicas de cada población...

Introduction: the sensitive innervation of the dorsum of the hand comes mainly from the superficial branch of the radial nerve, but this territory can be assumed by the lateral antebrachial cutaneous nerve. Objective: to describe a rare variation of the lateral cutaneous nerve of the forearm found in the cadaver lab of the Department of Morphology, at the Universidad del Valle in Cali, Colombia. Materials and Methods: male colombian cadaver, dissected by medical students. Results: the superficial branch of the radial nerve was absent and its sensory territory was totally assumed by the lateral antebrachial cutaneous nerve, which in the dorsum of the hand divided in the digital dorsal nerves for the thumb, index and middle fingers and the lateral half of the fourth digit. Discussion and Conclusion: considering the clinical and surgical implications that the distribution of a nerve can have, it is important to know precisely its normal anatomy and its possible variations, and direct them to the knowledge about the morphological characteristics of each population...

Características clínicas e oftalmológicas de indivíduos com necessidades especiais institucionalizados no estado de Pernambuco, Brasil / Clinical and ophthalmological findings in subjects with special needs institutionalized in Pernambuco, Brazil

OBJETIVO: Descrever as características clínicas e oftalmológicas encontrados em indivíduos institucionalizados, com necessidades especiais no estado de Pernambuco. MÉTODOS: Realizou-se projeto multidisciplinar em 37 pacientes, com necessidades especiais, institucionalizados na Comunidade Rodolfo Aureliano (CRAUR), unidade da Fundação da Criança e do Adolescente (FUNDAC) em Recife-PE. A faixa etária dos indivíduos institucionalizados variou de seis a 30 anos, média de 18,8 ± 5,1 anos. O sexo masculino foi mais prevalente com 35 indivíduos (94,5 por cento). Consideraram-se como indivíduos institucionalizados, aqueles que vivem abrigados em instituições mantidas pelo Estado. Foi feito estudo de corte transversal, verificando-se os principais achados clínicos e oftalmológicos destes indivíduos. Realizou-se o exame oftalmológico completo nos casos, com boa colaboração e de acordo com protocolo pré-estabelecido. RESULTADOS: Uso de álcool na gravidez foi relatado por nove mães (24,3 por cento). Verificou-se a presença de retardo mental grave em 22 casos (59,4 por cento), paralisia cerebral e epilepsia em sete (18,9 por cento) indivíduos cada. Foi possível a realização do exame oftalmológico completo em 24 indivíduos (64,8 por cento). Detectou-se cegueira legal em dez casos (41,6 por cento). Os diagnósticos oftalmológicos mais encontrados foram ambliopia, erro refracional e phthisis bulbi em três casos (12,5 por cento) cada. Estrabismo foi encontrado em dois casos (8,3 por cento). CONCLUSÃO: Os achados oftalmológicos revelaram a importância do exame oftalmológico em indivíduos com necessidades especiais institucionalizados. A associação com múltiplas deficiências, tais como: doenças neuropsiquiátricas, contribuiu para o maior grau de dificuldade na avaliação e condução dos casos.

PURPOSE: To describe the main clinical and visual findings in special needs subjects institutionalized in Pernambuco State. METHODS: Thirty seven subjects with special needs, institutionalized in Rodolfo Aureliano Community (CRAUR), from Children and Adolescent Foundation (FUNDAC), in Recife PE, were evaluated by a multidiscipline team. The subjects aged 6 to 30 years, with mean of 18.8±5.1 years. Most of them were boys (94.5 percent). Institutionalized individuals were considered when they lived in institutions maintained by the State. It was made a cross-sectional study, verifying the main clinical and ophthalmic findings of these individuals. It was performed a complete ophthalmic examination in cases with good cooperation in accordance with pre-established protocol. RESULTS: Alcohol use in pregnancy was reported by nine mothers (24.3 percent). Severe mental retardation was seen in 22 subjects (59.4 percent), cerebral palsy and epilepsy in 7 (18.9 percent) subjects each. It was possible to perform the complete ophthalmic examination in 24 subjects (64.8 percent). Legal blindness was detected in 10 cases (41.6 percent). Main ophthalmologic findings found were amblyopia, refractive error and phthisis bulbi in 3 cases (12.5 percent) each. Strabismus was seen in two cases (8.3 percent). CONCLUSION: The ophthalmological findings detected revealed the importance of ophthalmic examination in institutionalized individuals with special needs. The association with multiple disabilities such as neuropsychiatric diseases contributed to the greatest degree of difficulty in the evaluation and conduct of cases.