Malformations Of Other Organs Research Articles

Prenatal ultrasound diagnostics and sociopsychological support as rehabilitation measures in patients with congenital cleft palate complicated by anomalies of other organs and systems

BACKGROUND: Prenatal ultrasound diagnostics and sociopsychological support in the early rehabilitation of children with congenital cleft palate combined with malformations of other organs and systems complement the unified algorithm of dynamic monitoring and rehabilitation treatment of these patients. Thus, predicting the choice of techniques and the system of rehabilitation prescriptions became possible. AIM: To present the experience of prenatal ultrasound diagnostics and sociopsychological support during pregnancy for the early rehabilitation of a patient with cleft palate combined with malformations of other organs and systems. MATERIALS AND METHODS: The study was conducted in the Multiprofile Clinical Medical Center “Bonum” in Yekaterinburg. For 24 years, from the analysis of medical records of the organizational and rehabilitation process of 2,475 patients with congenital cleft lip and/or palate receiving comprehensive care (1998–2022), 823 (33.25%) patients who had with cleft palate and malformations of other organs and systems were enrolled in this study. The discharge epicrises of the pregnancy and the timing of intrauterine ultrasound diagnostics of the fetus were studied, and the history of childbirth and anamnesis of newborns and timing of their routing and registration in the specialized “Bonum” Center were analyzed. At the time of the initial outpatient appointment at the center, parents’ responses to a survey on the nature of emotional and psychological experiences during the prenatal ultrasound examination of the fetus, period of “bearing” pregnancy, and birth of a baby with a complex anatomical and physiological pathology were analyzed. RESULTS: Ultrasound examination of the fetus during uterine development registered 292 (35.48%) of 823 cases of a combination of congenital cleft palate and anomalies of other organs and systems. The main forms of malformations in the fetus were established in the second (n=99, 33.90%) and third (n=185, 63.36%) trimester pregnancy screening. Mothers who were told about the results of ultrasound diagnostics of the fetus showed anxiety and emotional lability. The use of psychocorrectional and socially significant measures during the diagnosis of fetal pathologies and at the time deciding whether to continue pregnancy, as well as the newborn period, which relieved the psycho-emotional tension of parents, was proposed. CONCLUSION: Early rehabilitation of patients with congenital cleft palate combined with malformations of other organs and systems should be provided as an integral part of the complex rehabilitation therapy. Sociopsychological support of the family from the period of prenatal diagnosis of the fetus who had multiple malformations is necessary at all stages of pregnancy and rehabilitation treatment of the child.

Differential diagnosis of syndromic craniosynostosis: a case series

PurposeSyndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis.MethodsWe identified in the period of 2000–2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures.ResultsEight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations.ConclusionSecond trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.

Multiple Genitourinary Malformations Associated with Malformations of Other Organs – As a Rarity of Case Report

Congenital anomalies are not uncommon. Urogenital disorders can be isolated or associated with other malformations, but they are usually misdiagnosed at birth and found in physical examination or as urologic signs at adolescence. This case report presents a rare case of a 3-year-old female patient with multiple malformations including ectopic anus, crossed fused ectopic kidney, vaginal duplication, bladder duplication, and multiple organ malformations. Prenatal diagnosis, a detailed physical examination and early surgical treatment are particularly important for prevention of further complications. In this case report, the surgical approach was performed using the cutback technique for rectovaginal separation among other surgical procedures in order to achieve functionality.

Complex clinical and echographic assessment of the peculiarities of developmental anomalies of uterus and vagina in children and adolescents

The objective. To assess the structure of independent and combined forms of anomalies in the development of the uterus and/or vagina in children and adolescents, justifying the need for ultrasound screening in this age group.Materials and methods. The study involved 146 patients with malformations of the uterus and/or vagina at the age from 10 to 20 years. All patients underwent a clinical examination, which included anamnestic data, gynecological examination, and ultrasound examination. The calculation of indicators of the diagnostic information content of ultrasound was carried out taking into account the sensitivity, specificity and accuracy of the method.Results. In the course of the study, it was found that the largest proportion of all anomalies of the internal genitals was uterine malformations (37,0%), complete doubling of the uterus and vagina (17,1%), vaginal aplasia (15,1%). Genetic or chromosomal pathology was detected in 36 patients (24,7%), in the remaining 110 patients (75,3%) a multifactorial nature of the disease was assumed.Attention is drawn to the fact that 48 patients (32.8%) with uterine and/or vaginal malformations, who did not present complaints, were identified during the primary ultrasound screening, which indicates the effectiveness of this method in examining girls and adolescents. In 12 children (8,25%) in addition to abnormalities in the development of the uterus and/or vagina, ultrasound revealed tumors and tumor-like diseases of the uterine appendages. Also, 57 malformations of other organs and systems were revealed in 49 (33,6%) examined patients, and 8 (5,5%) had concomitant defects. In most cases, in 99 patients (67,8%) with anomalies in the development of internal genitalia, the anamnesis was aggravated by the factors of their parents (burdened heredity, disease, occupational health, etc.)Conclusion. As a result of a comprehensive clinical examination of patients with congenital anomalies in the development of internal genitalia, the diagnosis was clarified, the share of hereditary and some environmental factors in the manifestation of this pathology was revealed, which is one of the common gynecological diseases that are characterized by a variety of forms of anomalies, clinical symptoms and a high percentage of diagnostic errors. At puberty, the use of echography to clarify the state of the internal genital organs is of great practical importance. Non-invasiveness, absence of psychogenic traumatization, safety and high information content make it possible not only to diagnose congenital pathology, but also to use this method as a dynamic observation of the state of the uterus and/or vagina in girls and adolescents, which is very important when choosing rational methods for correcting this pathology

Male pseudohermaphrodite with persistent Mullerian duct: A radiologist’s and patient’s dilemma alike

This case study highlights that how a disorder of sexual development when goes unnoticed at birth and unreported during childhood or adolescence can present with major problems and even complications in adulthood. Since our patient was young and in a childbearing age, he presented with bilateral undescended testes and orgasmic anejaculation when he first came to the hospital. Subsequently, having a normal 46XY karyotype but remnants of persistent Mullerian duct made him little confused about his identity. After giving him the confidence, that he was still a male and could lead the life he did previously, the explanation about future risk of malignancy in the intra-abdominal testes was another difficult task. Early detection and management of male pseudohermaphroditism with persistent Mullerian duct requires a co-ordinated approach of a team of endocrinologist, physician, surgeon and radiologist. Integrated imaging in the form of ultrasound, genitography and MRI is important in demonstrating the anatomy, classification, possible effects or congenital malformations in other organs, warning patients of any risk of neoplasia and guiding the clinician to plan other investigations, hormonal replacement or reconstruction surgery if required. Such a systemic approach that allays anxiety and gives psychological relief to the patient should be taken as it can deeply change the life of a person and their family.

Pulmonary Hypoplasia Associated with Ascites and Hydrothorax in a Newborn Pig

Background: Pulmonary hypoplasia is characterized by incomplete development of the lungs, owing to congenital defectsor the action of toxic substances. Moreover, it has rarely been described in pigs. Ascites or hydroperitoneum is characterized by the presence of fluid inside the abdominal cavity and does not generally cause changes in the abdominal organs. However, hydrothorax, characterized by the presence of fluid within the thoracic cavity, is responsible for the compression of thoracic organs and consequent heart and respiratory failure. This study aims to describe a case of congenital pulmonary hypoplasia associated with ascites and hydrothorax in a newborn pig.Case: A male neonate Landrace pig that died shortly after delivery was presented for necropsy with increased abdominal volume and bilateral extension of the pelvic limbs. The pig belonged to a litter of 13 piglets, four of which died shortly after birth. The rest of the piglets were poorly developed, but only one was presented for necropsy. Significant external changes, along with permanent distension, interpreted as arthrogriposis, were observed in the pelvic limbs. The skin of the ventral abdominal region was thin, with evidence of all blood vessels, interpreted as telangectasis. An internal examination revealed the presence of a slightly yellowish liquid in the thoracic and abdominal cavities, interpreted as hydrothorax and ascites, respectively. The lungs were reduced in size, indicating pulmonary hypoplasia. The liver had rounded edges, which were dark red and firm, with an irregular surface. Significant microscopic findings were observed in the lungs, which were divided by fibrous connective tissue and showed evidence of small and atrophied alveoli. Furthermore, connective tissue was observed around the peribronchiolar regions and underdeveloped cartilage around the airways. The liver showed dilation of the centrilobular veins. Moreover, the sinusoids were filled with erythrocytes, indicating congestion.Discussion: Pulmonary hypoplasia is a rare birth defect in pigs and can be accompanied by malformations of other organs, including anasarca. Pulmonary hypoplasia is caused by conditions that compress the lungs, such as congenital diaphragmatic hernia, intrathoracic masses, and pleural effusion or malformations in the chest cavity. However, none of these conditions were observed in the current case. Instead, the histopathological changes observed in the lungs were characteristic of pulmonary hypoplasia. A microscopic examination revealed that the hypoplastic lungs showed a reduced number of alveoli, replacement of the peribronchiolar smooth muscle by the connective tissue, and underdeveloped cartilage around the airways, all of which are characteristic of pulmonary hypoplasia. Vascular telangiectasia is characterized by abdominal distention due to a marked ascitic condition. Invariably, ascitic fluid accumulation results from changes in hydrodynamic parameters. The hydrothorax observed in this animal was suggestive of changes in the hydrodynamic parameters, which consequently led to fluid accumulation in the chest cavity. This has been previously described in a newborn pig infected with Clostridium difficile. The permanently and bilaterally extended pelvic joints observed at birth in this animal were interpreted as arthrogriposis. This change is attributed to various factors, such as fetal paralysis in pigs that ingest toxic substances like alkaloids present in Conium maculatum and in the stalks of Nicotiana tabacum and Datura stramunium. The literature describes pelvic limb paralysis in Landrace pigs as a genetically inherited disorder. However, it was not possible for us to establish the cause of arthrogriposis for certain in this pig.

Repair of complete atrioventricular septal defect in infants with down syndrome: outcomes and long-term results.

In clinical practice, the combination of congenital heart disease (CHD) with malformations of other organs occurs in about 10 % of cases, including chromosomal disease with heart defects, which are observed mainly with certain syndromes. In the Bakoulev SCCS (Moscow, Russian Federation), from 01.2005 to 01.2011, complete atrioventricular septal defect (CAVSD) repair was performed on 163 patients (5.6 ± 3.0 months) with Down Syndrome (DS) using the single-patch (n = 40) and the two-patch (n = 123) methods. The control group consisted of 214 infants aged 6.49 ± 3.03 months with CAVSD and normal karyotype. A retrospective cohort study was made, as well as a comparative analysis of the immediate (up to 30 days) and long-term (12-75 months, at the average of 56 ± 15) results of the repair of CAVSD in infants with DSand normal karyotype/chromosome set (NK). During the hospital treatment period, we registered the following complications: pulmonary hypertensive crises in 6 % (n = 9) of patients with DS and in 10 % (n = 21) of infants with NK, infectious complications in 21% (n = 34) of patients with DS and in 8% (n = 17) of infants with NK. Squeal structures in groups were differentiated. The doses and duration of cardiotonic support in the NK patients were significantly higher in comparison with the DS patients (7.5 ± 2.1 days vs 3.4 ± 1.15 days, p < 0.05). Respiratory infections on the background of immunodeficiency were found more often in the DS group (21% in DS vs 8% in NK, p < 0.05), demanding higher postoperative pulmonary ventilation time in DS patients in comparison with normal infants was required (DS 5.1 ± 2.8 days vs NK 1.7 ± 0.8 days, p < 0.05). In DS infants, abnormalities of the left AV valve (doubling of the mitral valve, single papillary muscle, closely spaced groups of papillary muscles, leaflet or chordal dysplasia, hypoplastic valve ring) occur as statistically significant (8% DS vs 12% NK; p < 0.05) which is rarer than in children having the same defect, but without Down syndrome. Concerning the long-term results, there was no significant difference (Gehan-Wilcoxon test) in actuarial freedom from reoperation after repair of CAVSD between DS and NK groups (p < 0.13). However, the presence of Down Syndrome in patients significantly increases the risk of severe co-morbidities that have a significant impact on the recovery period, as well as on life expectancy even after successful CHD correction.

Pancake kidney: A rare developmental anomaly.

There are many developmental anomalies of the kidney. Pancake kidney is one of the rarest types of renal ectopia. We report a case of pancake kidney which was detected incidentally while treating a female patient for a urinary tract infection. Although urinary system anomalies often coexist with malformations of other organs and systems, no associated anomalies could be detected in this case. Pancake kidney is usually managed by surgery, but this case was managed conservatively without any complication.

Clinicopathologic features of fetal nuchal cystic hygroma: report of 40 cases

To study the pathogenesis, pathologic features and prognosis of fetal nuchal cystic hygroma. Forty autopsied cases of fetal nuchal cystic hygroma were collected during January 2003 to December 2012. The clinical history, pathologic changes and immunohistochemical (EnVision method) findings were reviewed, and the pathogenesis and pathologic characteristics were analyzed. Of the 40 cases, 16 (40.0%) showed single malformation and 24 (60.0%) were associated with multiple malformations in other organs and/or systems.Nineteen cases were septated and 21 were not. The associated malformations occurred in the respiratory system, skeletal system and urinary system.In the cases of combined malformations of umbilical cord, 3 were single umbilical artery malformations and 1 was torsion and stricture of umbilical cord.Four cases had chromosomal analysis, and all were trisomy-21. Fetal nuchal cystic hygroma is a rare disease. The etiology is unknown, but it is not neoplastic.Lymphangioma is divided into 3 types:capillary lymphangioma, cavernous lymphangioma and cystic hygroma according to their expansile growth pattern. The overall prognosis is determined by any co-existing chromosomal anomalies, associated malformations and the time of diagnosis of the cystic hygroma.

Presentación de tres casos de síndrome de Pallister-Killian

Pallister-Killian syndrome is characterised by intellectual disability, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia. It is often associated with seizures and malformations in other organs and systems. The main cause is mosaicism for tetrasomy of chromosome 12p. We present three new paediatric cases of this rare entity, its clinical features are described and a literature review is carried out. It is important to be familiar with the syndrome so that it can be diagnosed, since what commonly happens is that, without performing a skin biopsy or buccal smear, the chromosomal abnormality goes undetected if the classic cytogenetic techniques are used. Nowadays, the diagnosis can be performed in blood by means of CGH-array or SNP-array, although the chances of finding the chromosomal anomaly depend on the percentage of mosaicism.

Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic

Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their etiology are hardly available due to the heterogeneity across classification systems. In this study, we aim at defining the CULA etiology of patients that have been evaluated at the Modena University Hospital's Congenital Hand Malformations multidisciplinary clinic in the years 2004 to 2012. Medical records of 487 patients were retrospectively reviewed. On the basis of clinical, anamnestic, and genetic data, the CULA were distributed into two main groups: (1) non-Mendelian etiology, including prenatal exposure, somatic mutations and amniotic bands; and (2) Mendelian etiology, including single gene and genomic/chromosomal diseases. CULA were further grouped according to the embryological damage (formation, separation and growth defects) and to the involved axis (radial, ulnar, central). A Mendelian etiology was diagnosed in 199 patients (40.9%), whereas the remaining 288 cases (59.1%) were described as non-Mendelian. The involvement of the lower limbs, the presence of malformations in other organs and facial dysmorphisms were significantly more represented in the Mendelian cases. The formation defects were significantly more frequent in the non-Mendelian group (p < 0.001), whereas the frequency of separation defects was higher in the Mendelian cases (p = 0.0025). Patients with non-Mendelian etiologies showed a significantly higher frequency of central defects (p = 0.0031). The two etiologies differ in terms of patient's clinical features, morphology defect and axis involvement. This data may be helpful to the clinician during the patient's diagnostic workup by indicating the necessity for genetic testing and for determining the anomaly's recurrence risk.

Immunoexpression of Ki-67 in pulmonary hypoplasia

Adequate pulmonary development at birth is the major determinant of postnatal outcome in the perinatal period. Lung hypoplasia is a poorly defined condition. The aim of this study was to investigate expression of Ki-67 in human fetuses with pulmonary hypoplasia compared to fetuses without pulmonary pathology and malformations of other organs used as controls. The analysis comprised 149 formalin-fixed and paraffin-embedded tissue sections from the files of the Clinical Pathology Department of the Research Institute of Polish Mother's Memorial Hospital in Lodz. Tissue sections obtained from lungs during autopsies were divided into two groups. In our studies immunohistochemistry was performed using antibody against Ki-67 as a cell proliferation marker for evaluation of growth fraction in the fetal and neonatal human lungs. The results presented in our study showed higher expression of growth fraction in the control group as compared to study subjects in all stages of lung development. Values of Ki-67 positive cells in the saccular stage of lung development were lower than in the canalicular and alveolar phase in both study and control groups. In conclusion, our results indicate their usefulness to understand better etiology of pulmonary hypoplasia and may be helpful in identifying the most appropriate moment for prenatal interventions.

Parasitic Rachipagus Conjoined Twins With Spina Bifida, Diplomyelia, Scoliosis, Tethered Cord Syndrome, and Ventricular Septal Defect -Case Report-

A 17-year-old girl presented with a rare case of parasitic rachipagus conjoined twins associated with spina bifida, diplomyelia, scoliosis, tethered cord syndrome, and ventricular septal defect. Physical examination found a well developed breast and an apophysis on the back of the patient, and neuroimaging demonstrated scoliosis, spina bifida from T8 to L5, butterfly-shaped vertebra of T6, abnormal bone behind T7, diplomyelia, and tethered cord. Successful surgical excision of the parasitic mass was performed. Histological examination discovered uterine tube, Muller's duct, bone, cartilage, and nerve tissue besides the mammary gland. Rachipagus conjoined twins are extremely rare, but should be considered if well developed abnormal tissue is found in the dorsal midline of the spine. However, the possibility of malformations in other organs in the autosite should be considered. Careful preoperative examination and refined microsurgery may provide good outcome for the patient.

Non-hereditary multiple renal cysts in unilateral kidney.

A 52-year-old male, who noticed a sudden onset of general fatigue and appetite loss, visited our hospital. No other family member had a history of renal disease. He had been diagnosed with alcoholic hepatopathy 10 years before. His blood pressure was 112/72 mmHg. His right kidney was felt during palpation at the upper right abdominal area. Laboratory findings showed elevated levels of liver enzymes, but renal function was normal (serum creatinine 1.01 mg/dL). On urinalysis, occult blood and urine protein were negative. Abdominal computed tomography revealed multiple large cysts in the right kidney, a normal left kidney, and no evidence of further cystic disease in other organs (Figure 1). A diffuse low-density area in his liver was interpreted as fatty liver due to alcoholic hepatopathy. There was no evidence of urinary tract malformation. 99mTc-DTPA renal scintigraphy showed asymmetrical accumulation, and the right kidney was non-functioning on scintigraphy (Figure 2). Fig. 1 An abdominal computed tomography scan demonstrated multi-cystic involvements of the right kidney, which measured 126 × 88 × 84 mm and extended into the pelvis. No further cystic involvement of the contralateral kidney or other abdominal ... Fig. 2 99mTc-DTPA renal scintigraphy showed asymmetrical accumulation, and the estimated glomerular filtration rates determined by scintillation count were decreased in the right kidney (right 5.2 mL/min; left 64.8 mL/min). The right kidney was non-functioning ... Unilateral renal cystic disease (URCD) is a rare and poorly understood condition, first described in 1979 [1]. Only 55 cases have been reported [2,3]. Except for its unilateral localization, it resembles autosomal dominant polycystic kidney disease (ADPKD) on gross and histological examination [4]. However, unlike ADPKD, URCD patients show neither a genetic background nor progressive deterioration in renal function. To diagnose URCD, characteristic CT findings are required in addition to genetic and clinical findings. URCD is characterized by cysts of varying sizes localizing in a diffusely enlarged kidney but not forming a distinct encapsulated mass, and the absence of intervening normal renal parenchyma between the cysts. In the present case, unilateral localization, a negative family history, no progression to chronic renal failure, and the absence of cysts or malformations in other organs were taken to confirm the diagnosis of URCD in our adult patient. In URCD, the contralateral unaffected kidney in adult patients may occasionally show a few simple cysts as has been documented [2], and the evolution of unilateral disease into bilateral disease has been reported [5]. Moreover, it is possible that development of complicated cysts due to rupture or infection of cysts, occurrence of malignancy, or growth of a kidney may appear. Therefore, our patient required long-term follow-up observation. Conflict of interest statement. None declared.

Ectodermal dysplasias: An overview and update of clinical and molecular‐functional mechanisms

The ectodermal dysplasias (EDs) are a large and complex group of disorders. In various combinations, they all share anomalies in hair, teeth, nails, and sweat gland function. The anomalies affecting the epidermis and epidermal appendages are extremely variable. Many are associated with malformations in other organs and systems. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Most of the EDs present multisystem involvement with abnormal development of structures also derived from mesoderm. In the last few years, it has become evident that gene expression in the EDs is not limited to the ectoderm and that there is a concomitant effect on developing mesenchymal structures, with modification or abolition of ectodermal-mesenchymal signaling. It is possible to approach this group of diseases basing on functional and molecular findings and to begin to explain the complex clinical consequences of mutations affecting specific developmental pathways. We have reviewed the molecular basis of ectodermal dysplasias applying this new clinical-functional classification. For each subset of the identified ED, we will now describe the genes and related proteins involved in terms of: (1) structure of the genes and their role in differentiation of the epidermis and the ectodermal derivatives; (2) genotype-phenotype correlation.

Hereditary haemorrhagic telangiectasia: a cause of preventable morbidity and mortality

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition whose effects are mediated through deficient blood vessel formation and regeneration, with multisystem involvement. Patients are usually aware of resulting skin telangiectasia and epistaxis, but are also exposed to dangers posed by occult vascular malformations in other organs. About 15-35% of HHT patients have pulmonary AVMs (PAVMs), 10% have cerebral AVMs (CAVMs), 25-33% suffer significant GI blood loss from GI tract telangiectasia, and an unknown but high percentage have liver involvement. In total, 10% of affected individuals die prematurely or suffer major disability from HHT, largely because of bleeding from CAVMs and PAVMs, or paradoxical embolization through PAVMs. Screening for and early intervention to treat occult PAVMs and CAVMs can largely eliminate these risks, and should be undertaken in a specialist centre. The National HHT Center in The Mercy University Hospital in Cork is the referral centre for HHT screening in Ireland.

Rare association of polysplenia with anencephaly

ABSTRACT Anencephaly is usually observed without association of severe malformations of other organs. A case of polysplenia, which was experienced in a 20-week-old anencephalic female fetus, was reported. The families of the parents had no history of neural tube defects. There was no consanguinity between the parents. The fetus showed a typical anencephaly with absent cranial vault, exophthalmus, hyperplastic thymus and hypoplastic adrenals. There was an atypical polysplenia consisting of five small spleens, absent gall bladder, short pancreas, small intestinal atresia and Fallot tetralogy. No visceral heterotaxy was observed in bronchi, lungs, liver or stomach. Though no direct association has been recognized between anencephaly and polysplenia, recent progresses in the studies of human fetuses and animal experiments help explain the relationship between anencephaly and heterotaxy syndrome. The mother of the present fetus had no history of hyperthermia, drug take or diabetes mellitus. She also had no infections such as virus and toxoplasma before and during pregnancy. There were no clues that would elucidate the etiology of the present anencephalic fetus with polysplenia. Precise surveillance and records of such cases should be advisable.

Microtia: A Clinical and Genetic Study at the National Institute of Pediatrics in Mexico City

Background Microtia is a malformation of the ear with extreme variability of expression. It is generally seen as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), where, in addition, there are facial, vertebral, and renal abnormalities, among others. Methods A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an intentional clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60%), with isolated microtia; and group 2 (40%), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. Results No significant differences were found between the groups when the following variables were compared: gender; presence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricular tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other organs or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66% of the cases were sporadic and the rest were familiar. In 28.3% of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5%, an autosomal-recessive inheritance pattern, although in some familial cases, multifactorial inheritance could not be ignored. Some members in several families had isolated microtia, and others had mild characteristic manifestations of OAVS. Conclusions Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of first-degree relatives for adequate genetic counseling and management.

Síndrome de regresión caudal

The regression caudal syndrome includes a spectrum of malformations which vary from the symptomless coccygeal agenesis until thoracic vertebrae and sacrococcygeal agenesis with severe neurological deficit; it is associated sometimes with malformations in other organs and systems. We present a case of partial agenesis of sacro and coccix with neuromuscular, sphincter and orthopedist alterations. A 4-year-old patient consults because of walk alterations, with daytime and nocturnal enuresis and urinary incontinence, constipation/encopresis and rectal prolapse. Familiar and personnel precedents are uninteresting. She began to walk at normal age, referring only rectal prolapse with constipation from nursing and urinary tract infections and encopresis when she was 3 years old, with normal complementary explorations (digestive and nephrourologyc). She presents in lumbosacral X-rays four lumbar vertebrae, a dysplasic sacro and absence of coccix. Hypoplasy of sacro with bilateral stenosis of the pelvis and coxa vara in both femurs are seen in the lumbar CT. In RMI is observed agenesis of sacro and coccix vertebrae. There are a wide variety of sacrococcygeal agenesis, which are classified by Renshaw and modified by Pang. As etiologics factors we find the gestational diabetes, in addition to genetic factors. The clinic exploration guides us toward a flaccid paraparesia/areflexia, with orthopaedist alterations, sometimes of artrogripotyc type. With image techniques (X-rays, CT, MRI) we can accomplish the diagnosis and we can discard or demonstrate associated medullary anomalies. We concluded that in all patient with alterations of walk and/or lack of sphincters control we should explore the lumbosacral region searching for medulodiysplasic or vertebral alterations.

Transposition des äußeren Genitale

The syndrome of complete peniscrotal transposition is rare. Combination with malformations of other organs is frequent. Sometimes, life is not possible with these malformations. The demonstrated case gives an overview of: Definition, Epidemiology, Etiology and the Diagnostic and therapeutic procedure.