Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.

Asociación de sobrepeso u obesidad con trastornos del estado de ánimo en adolescentes / Association of overweight or obesity with mood disorders in adolescents Abstract

Determinar la asociación entre sobrepeso-obesidad y trastornos del estado de ánimo en adolescentes, específicamente depresión, ansiedad, baja autoestima y dismorfia corporal. Metodología: Diseño transversal comparativo en adolescentes de 12 a 14 años, se integraron dos grupos el primero con sobrepeso-obesidad y el segundo con normopeso. Los trastornos del estado de ánimo fueron evaluados con Inventario de Depresión de Beck-II, Escala de ansiedad de Hamilton, Escala de autoestima de Rosenberg y Cuestionario de forma corporal de Cooper. El análisis estadístico incluyó chi cuadrada y razón de momios. Resultados: Se encontró asociación de sobrepeso-obesidad con depresión RM 17,94 (IC 95%; 8,17-39,38), ansiedad RM 11,11 (IC 95%; 4,75-25,97), autoestima RM 8,40 (IC 95%; 4,08-17,24) y dismorfia corporal RM 9,64 (IC 95%; 2,14-43,17). Conclusión: Existe asociación entre sobrepeso-obesidad y trastornos del estado de ánimo en adolescentes(AU)

To determine the association between overweight-obesity and mood disorders in adolescents, specifically depression, anxiety, low self- esteem and body dysmorphism. Methodology: Comparative cross-sectional design in adolescents aged 12 to 14 years, two groups were integrated the first with overweight-obesity and the second with normal weight. Mood disorders were evaluated with Beck-II Depression Inventory, Hamilton Anxiety Scale, Rosenberg Self-Esteem Scale and Cooper Body Form Questionnaire. The statistical analysis included chi square and odds ratio. Results: Overweight-obesity association with depression was found in OR 17,94 (IC 95% 8,17-39,38), OR 11,11 anxiety (IC 95% 4,75-25,97), OR self-esteem 8,40 (IC 95% 4.08-17.24) and body dysmorphism OR 9.64 (IC 95% 2.14-43.17). Conclusion: There is an association between overweight-obesity and mood disorders in adolescents(AU)

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability

PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. RESULTS: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.

Bohring-opitz syndrome - A case of a rare genetic disorder

genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chromosomal analysis showed 46 xx -Bohring-Opitz Syndrome overlapped with C- syndrome. Goal-directed holistic care with integration of parent/carer training was started very early. She succumbed to a Respiratory- Syncitial-Virus and Pseudomonas pneumonia complicated with sepsis at the age of two years and 11 months.

Clinical characteristics and intervention in maternal phenylketonuria / 中国小儿急救医学

Maternal phenylketonuria(MPKU) is a syndrome caused by high phenylalanine concentrations in serum of pregnant women with phenylketonuria.MPKU results in neonatal microcephaly,facial dysmorphism,congenital heart defects,mental retardation,intrauterine growth restriction,behavior and emotional problems.To control serum Phe level of pregnant phenylketonuria women and maintain Phe concentration between 120 to 360μmol/L will prevent offspring poor outcomes such as intellectual disabilities and microcephaly.Three level interventions are best ways in MPKU management.

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism / 소아과

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18)(q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

Mucopolysaccharidosis type II (Hunter syndrome) – A case report.

Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs). We present a rare case of MPS with a typical presentation of coarse facies, short stature, mild mental retardation and absence of corneal clouding. His radiographic findings were suggestive of MPS and diagnosis was confirmed by demonstrating deficient Iduronate-2-sulphatase enzyme in plasma. We present this case to highlight the distinctive manifestations as well as radiological and definitive diagnostic findings of the Hunter syndrome.

Fertilization and embryo quality of mature oocytes with specific morphological abnormalities / 대한생식의학회지

OBJECTIVE: To investigate fertilization and embryo quality of dysmorphic mature oocytes with specific morphological abnormalities obtained from intracytoplasmic sperm injection (ICSI). METHODS: The fertilization rate (FR) and embryo quality were compared among 58 dysmorphic and 42 normal form oocytes (control 1) obtained from 35 consecutive ICSI cycles, each of which yielded at least one dysmorphic mature oocyte, performed over a period of 5 years. The FR and embryo quality of 441 normal form oocytes from another 119 ICSI cycles that did not involve dysmorphic oocytes served as control 2. Dysmorphic oocytes were classified as having a dark cytoplasm, cytoplasmic granularity, cytoplasmic vacuoles, refractile bodies in the cytoplasm, smooth endoplasmic reticulum in the cytoplasm, an oval shape, an abnormal zona pellucida, a large perivitelline space, debris in the perivitelline space, or an abnormal polar body (PB). RESULTS: The overall FR was significantly lower in dysmorphic oocytes than in normal form oocytes in both the control 1 and control 2 groups. However, embryo quality in the dysmorphic oocyte group and the normal form oocyte groups at day 3 was similar. The FR and embryo quality were similar in the oocyte groups with a single abnormality and multiple abnormalities. Specific abnormalities related with a higher percentage of top-quality embryos were dark cytoplasm (66.7%), abnormal PB (50%), and cytoplasmic vacuoles (25%). CONCLUSION: The fertilization potential of dysmorphic oocytes in our study was lower, but their subsequent embryonic development and embryo quality was relatively good. We were able to define several specific abnormalities related with good or poor embryo quality.

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.

BACKGROUND: Mental retardation (MR) has a prevalence of 1‑3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4‑28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used. It has been shown that 15‑25% of idiopathic MR (IMR) has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique. MATERIALS AND METHODS: Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test. RESULTS: In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re‑evaluation) are removed. CONCLUSION: The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism.

Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, and mental retardation. Very few cases are reported in literature from developing countries. Diagnosis is often delayed due to non-familiarity with the characteristic features of this syndrome. Aims: To report 11 cases of RSTS and to review the current literature. Settings And Design: Retrospective study conducted in genetic and metabolic unit of a tertiary care teaching hospital in north India over a period of 3½ years. Materials And Methods: 11 patients with diagnosis of RSTS were identified, and their case sheets were reviewed. Results: Developmental delay was presenting complaint in 10 patients, and seizure in 1 case. 7 patients had microcephaly (head circumference below −3 SD), and a prominent beaked nose was seen in 9 patients. The intelligence quotient (IQ) varied from 22-62 in 7 patients who had mental retardation. The most notable features in hands were broadness, shortening, and flattening of the distal phalanx of thumbs or great toes. Additionally, we also noted webbing of neck, microphthalmia, and pachygyria (on MRI brain) in 1 patient each. Conclusions: The diagnosis of RSTS is primarily clinical and based on characteristic phenotype that is often combined with a variety of somatic anomalies. An early diagnosis facilitates appropriate genetic counseling and in planning the management.

Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report.

In this report, we describe a one and a half year old girl showing terminal deletion of long arm of chromosome 6q. The associated abnormalities such as congenital heart disease, mental retardation, and dysmorphic features are described. Cytogenetic studies with GTG banding showed 46,XX,del(6)(q24→qter). Karyotype of the parents was normal suggesting a denovo event.

A Case of Ring Chromosome 14 Syndrome Presenting with Intractable Epilepsy

Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and one case in Korea. Epilepsy is the most common and serious neurologic comorbidity of the syndrome and it typically begins at early ages and frequently becomes intractable. We report a girl with ring chromosome 14 syndrome who showed early onset intractable epilepsy with repetitive episodes of clustering seizures. We describe the case and the result of long term follow-up for the epilepsy. The early suspicion of the syndrome and prompt management for seizures are necessary for the favorable prognosis.

A Case of Ring Chromosome 14 Syndrome Presenting with Intractable Epilepsy / 대한간질학회지

Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and one case in Korea. Epilepsy is the most common and serious neurologic comorbidity of the syndrome and it typically begins at early ages and frequently becomes intractable. We report a girl with ring chromosome 14 syndrome who showed early onset intractable epilepsy with repetitive episodes of clustering seizures. We describe the case and the result of long term follow-up for the epilepsy. The early suspicion of the syndrome and prompt management for seizures are necessary for the favorable prognosis.

Oculo-facio-cardio-dental syndrome in a girl and her mother.

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.

Sudden cardiac death under anesthesia in pediatric patient with williams syndrome: A case report and review of literature.

Williams syndrome is a complex syndrome characterized by developmental abnormalities, craniofacial dysmorphic features, and cardiac anomalies. Sudden death has been described as a very common complication associated with anesthesia, surgery, and procedures in this population. Anatomical abnormalities associated with the heart pre-dispose these individuals to sudden death. In addition to a sudden and rapid downhill course, lack of response to resuscitation is another significant feature seen in these patients. The authors report a five-year-old male with Williams syndrome, hypothyroidism, and attention deficit hyperactivity disorder. He suffered an anaphylactic reaction during CT imaging with contrast. Resuscitation was unsuccessful. Previous reports regarding the anesthetic management of patients with Williams are reviewed and the potential for sudden death or peri-procedure related cardiac arrest discussed in this report. The authors also review reasons for refractoriness to defined resuscitation guidelines in this patient population.

Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome

PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. MATERIALS AND METHODS: Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. RESULTS: All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. CONCLUSION: Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.

Síndromes genéticos reconocibles en el período neonatal / Genetic syndromes recognizable in the neonatal period

La presencia de un cuadro neurológico neonatal asociado o no a dismorfias o a un fenotipo particular puede responder a diversas causas a) Prenatales: infecciosas (Grupo TORCH), agentes tóxicos o teratogénicos (alcohol, cocaína, antiepilépticos, inhalantes como el tolueno, etc.), defectos vasculares o anomalías genéticas b) Perinatales: cuadros hipóxico isquémicos, infecciones o trastornos metabólicos, entre otros. En este trabajo analizaremos aquellas entidades de origen genético reconocibles en el período neonatal por su fenotipo, las cuales deben incluirse entre los diagnósticos diferenciales frente a un niño con compromiso neurológico. Con el objeto de facilitar el reconocimiento de estas entidades las dividiremos de acuerdo al fenotipo más destacado u orientador, presente en el momento del nacimiento dividiéndolas en 2 grandes grupos: 1) Génicas, en las que incluimos: Síndromes con facies características y malformaciones en los miembros; Síndromes de sobrecrecimiento; Síndromes con déficit del crecimiento prenatal; Síndromes neuro-ectodérmicos; Síndromes con facies características con compromiso ocular y Síndromes con facies características (incluyendo, en las que lo tienen, su número del MIM) y 2) Cromosómicas (anomalías en los autosomas: de número; en mosaico; deleciones y anomalías en los cromosomas sexuales). El reconocimiento a través del fenotipo de encefalopatías congénitas de origen genético es de gran importancia ya que su identificación permitirá: Orientar estudios diagnósticos específicos; evitar prácticas cruentas y/o costosas, inútiles si el diagnóstico clínico es por sí orientador; proveer el adecuado asesoramiento genético familiar y controlar evolutivamente las posibles complicaciones.

The presence of a neonatal neurological lesion associated or not with dysmorphism or with a particular phenotype can be caused by a) prenatal infections (Group TORCH) toxic or teratotoxic agents (alcohol, cocain, antiepileptics, inhalants such as toluene, etc.), vascular defects or genetic anomalies; b) perinatal isquemic hypoxic lesions, infectious or metabolic disorders, etc. In this paper we analyze all entities of genetic origin neonatally recognizable by their phenotype which must be included in the differential diagnosis of all children neurologically compromised. In order to simplify the diagnosis, these entities will be divided according to the prevalence of the phenotype present at birth, dividing them into two large groups: 1) Genic alterations which include: Syndromes with characteristic facies and member malformations, Supra growth syndrome, Syndrome with neonatal growth deficit, Neuro-ectodermic syndromes, Syndromes with characteristic facies and ocular compromise, Syndromes with characteristic facies including those that bear MIM number, and 2) Chromosomal alterations (autosomal in number, mosaic, deletion, and sex chromosomes). The detection of these anomalies through phenotype studies involving congenital encephalopathies of genetic origin is of major importance because it will permit the orientation of specific diagnostic studies, the prevention of difficult and expensive maneuvers, and furthermore, it will offer adequate family counseling and control eventual complications.

A case of mosaic ring chromosome 13 syndrome / 소아과

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

Avaliação comparativa da sedimentoscopia urinária realizada pelo nefrologista e pelo profissional de análises clínicas em pacientes com glomerulopatias / Comparative assessment of urinary sediment done by the nephrologist and by the clinical analyst professional in patients with glomerulonephritis

Introdução: A sedimentoscopia urinária com microscópio munido com contraste de fase (MCF) deveria ser a primeira etapa na determinação da origemdas hematúrias. Objetivo: Avaliar discrepâncias nas descrições dos parâmetros urinários relacionados à origem das hematúrias, comparando as descrições do nefrologista (Nef) e do profissional de análises clínicas (PAC). Métodos: Urinas de pacientes com glomerulopatias (GP) confirmadas por biópsia renal foram analisadas sob MCF, por um Nef e um PAC, ambos sem conhecimento prévio da origem das amostras. Cilindros hemáticos, acantocitúria ou células G1 >5% e dismorfismo eritrocitário foram utilizados na localização glomerular das hematúrias. Resultados: Dos 28 pacientes, 13 pacientes (46,4%) apresentavam glomerulonefrites não proliferativas e 15 (53,6%) glomerulonefrites proliferativas. Comparativamente ao PAC, o Nef identificou maior número de hemácias (mediana/mL de urina, 80.000 vs 4.800, p=0,001), maior número de cilindros hemáticos (39,3% vs 0%, p=0,001), maior freqüência de acantocitúria ou células G1 >5% (35,7% vs. 7,14%, p=0,021) e de dismorfismo eritrocitário (96,2% vs 7,14%, p<0,001). As discrepâncias dos resultados permaneceram após a separação das glomerulopatias em proliferativas e não proliferativas. Conclusão: Os parâmetros urinários que caracterizam a origem da hematúria foram mais freqüentemente identificados pelo nefrologista e sugerem que a urinálise, pela sua simplicidade e grande valor informativo, deveria ser incluída obrigatoriamente nos programas de treinamento em nefrologia.

Introduction: In the assessment of hematuria, the first step should be the identification of the origin of the bleeding, which can be done easily by analyzing the urine under phase-contrast microscopy. Obective: To assess the discrepancy of reports of the urinary parameters utilized in the localization of the glomerular origin of hematuria, comparing reports by the nephrologists and by the clinical laboratory technologist. Methods: Urines of patients with biopsy proven glomerulonephritis were assessed under phase-contrast microscopy by a nephrologist and a clinical laboratory technologist, both without previous knowledge of the origin of the samples. Red blood cell (RBC) casts, urinary acanthocytes or G1 cells >5%, and erithrocyte dysmorphism were used tolocalize the glomerular bleeding. Results: Among 28 patients, 13 (46.4%) had non proliferative glomerulonephritis and 15 (53.6%) had proliferative glomerulonephritis. Relatively to the clinical laboratory technologist, the nephrologist identified more RBC (median of 80.000 vs 4.800, p= 0.001), more RBC casts (39.3% vs 0%, p=0.001), more urinary acanthocytes or G1 cells >5% (35.7% vs 7.14%, p=0.021) and more dysmorphic RBC (96.2% vs 7.14%,p<0.001). The discrepancies of the reports were maintained after the separation of the glomerulonephritis in proliferative and non proliferative. Conclusion: The urinary parameters used in characterization of the origin of the hematuria were more frequently identified by the nephrologist, and suggest that the urinalysis, a simple and very informative test, should be mandatory in programs of training in nephrology.

A Case of Duplication 9q Syndrome

Since the first description of the trisomy 9p in 1970, over one hundred cases have been described with the advanced chromosomal banding technique. Clinical findings include growth and mental retardation and facial dysmorphism. Crucial determinants of the classical features of this syndrome lie within the distal half of the chromosome 9 short arm. But this syndrome has not been reported in Korea, we are reporting a boy diagnosed by clinical features and chromosomal study that is trisomic for a partial short arm of a chromosome 9. A brief review of the literature is included.