ABSTRACT
Abstract A case was reported of a fetus with the anomaly of limb body wall complex associated with placenta accreta. To date, only one account of this condition has been published in the world literature. Due to the low frequency of both complications, the hypothesis has been raised that this association may have happened not by mere coincidence, but rather by a possible common etiopathogenic mechanism. For the first time, a study proposes the existence of a possible etiopathogenic connection between the anomaly of limb body wall complex and hypoxic disorders caused by inadequate placentation in previous uterine scarring.
Resumo Foi relatado um caso de feto com anomalia de limb body wall complex associada a uma placenta acreta. Até o presente, apenas uma descrição com essa condição foi publicada na literatura mundial. Devido à baixa frequência das duas complicações, foi levantada a hipótese de que essa associação possa ter ocorrido não por umamera coincidência,mas por um possível mecanismo etiopatogênico comum. Pela primeira vez, um estudo propõe a existência de uma possível possível ligação etiopatogênica entre a anomalia de limb body wall complex e os transtornos hipóxicos causados pela placentação inadequada em cicatriz uterina prévia.
Subject(s)
Humans , Female , Pregnancy , Adult , Abnormalities, Multiple , Placenta Accreta , Abnormalities, Multiple/etiology , Placenta Accreta/etiologyABSTRACT
El síndrome de regresión caudal es una malformación congénita poco frecuente que abarca un gran espectro de formas de presentación. Caracterizado por el compromiso musculoesquelético caudal, se puede asociar a defectos neurológicos, gastrointestinales, renales y genitourinarios. Aunque su etiología aún no se encuentra aclarada, se ha asociado a la presencia de diabetes materna y a mutaciones en el gen homeobox HBLX9. Su diagnóstico se basa en un buen estudio ecográfico prenatal, un examen físico detallado y estudio imagenológico posnatal con radiografía y/o resonancia magnética. El síndrome de regresión caudal requiere un manejo multidisciplinario en el cual el control metabólico de la diabetes gestacional constituye la mejor medida preventiva disponible en la actualidad. Se presenta el caso e imágenes de un recién nacido de término de sexo masculino, hijo de madre diabética pregestacional con mal control metabólico y diagnóstico ecográfico prenatal de malformación de columna lumbar, huesos iliacos y extremidades inferiores. Nace en buenas condiciones y se confirma el diagnóstico de síndrome de regresión caudal mediante estudio radiográfico y resonancia magnética compatibles.
Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.
Subject(s)
Humans , Male , Female , Pregnancy , Adult , Sacrococcygeal Region/abnormalities , Abnormalities, Multiple/diagnosis , Ultrasonography, Prenatal/methods , Diabetes, Gestational/physiopathology , Meningocele/diagnosis , Sacrococcygeal Region/physiopathology , Abnormalities, Multiple/etiology , Abnormalities, Multiple/physiopathology , Lumbar Vertebrae , Meningocele/etiology , Meningocele/physiopathologyABSTRACT
Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.
Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/etiology , Adult , Arachnodactyly/diagnosis , Arachnodactyly/etiology , Blepharophimosis/diagnosis , Blepharophimosis/etiology , Cesarean Section , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/etiology , Contracture/diagnosis , Contracture/etiology , Female , Heart Septal Defects, Atrial/etiology , Hernia, Inguinal/etiology , Humans , Infant, Premature , MaleABSTRACT
Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.
Subject(s)
Abnormalities, Multiple/etiology , Adult , Child , Cleft Lip/epidemiology , Cleft Lip/genetics , Cleft Palate/epidemiology , Cleft Palate/genetics , Cluster Analysis , Ectodermal Dysplasia/epidemiology , /genetics , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Fingers/abnormalities , Hair Color , Humans , Ichthyosis/etiology , Infant, Newborn , Lacrimal Apparatus/abnormalities , Pigmentation Disorders/etiology , Siblings , Syndrome , Urogenital Abnormalities/etiologyABSTRACT
We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.
Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/etiology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/surgery , Child , Family , Humans , Male , Malignant Hyperthermia/diagnosis , Malignant Hyperthermia/epidemiology , Malignant Hyperthermia/etiology , Malignant Hyperthermia/genetics , Malignant Hyperthermia/surgery , Siblings , Skin Abnormalities/diagnosis , Skin Abnormalities/epidemiology , Skin Abnormalities/genetics , Skin Abnormalities/surgery , Young AdultABSTRACT
Caudal regression is a rare congenital malformation which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lover limbs. It can be associated to visceral defects (gastrointestinal, genitourinary, cardiac or neurological) in various degrees. The etiology is not yet clear, but maternal diabetes, genetic predisposition, and vascular hypoperfusion are suspected. Objective: Describe a case of exceptional extension, including first year evolution. Clinical Case: A male newborn, term, was diagnosed before birth. Mother is a Type 2 diabetic. Physical exam and images confirm the diagnosis, show presence of 7 cervical vertebrae, 8 thoracic, agenesia of distal dorsal and lumbosacral spine. No spinal disraphia, medular conus at D2. Conclusion: The reported case shows that early diagnosis and multidisciplinary evaluation of the patient are essential elements to decrease complications and improve prognosis.
Antecedentes: El síndrome de regresión caudal es una malformación congénita poco frecuente, caracterizada por un amplio espectro de anormalidades musculoesqueléticas que comprometen columna lumbosacra, pelvis y extremidades inferiores. Se puede asociar a diversos defectos viscerales (gastrointestinales, genitourinarios, cardíacos y neurológicos) presentes en distintos grados según la severidad del caso. Su etiología aún no se encuentra bien dilucidada, pero se sospecha que la diabetes materna, la predisposición genética y la hipoperfusión vascular serían algunos de los factores involucrados en su patogénesis. Objetivo: Dar a conocer un caso de regresión caudal de extensión excepcional y describir su evolución durante el primer año de vida. Caso clínico: Se presenta el caso de un recién nacido de término, sexo masculino, hijo de madre diabética tipo 2, con diagnóstico antenatal de síndrome de regresión caudal. El examen físico y las imágenes confirman el diagnóstico y muestran la presencia de siete cuerpos vertebrales cervicales y sólo ocho torácicos, con agenesia de columna dorsal distal y lumbosacra, sin disrrafia espinal y cono medular en nivel de D2. Conclusión: El caso reportado demuestra que tanto el diagnóstico precoz como la evaluación multidisciplinaria del paciente, son pilares esenciales para disminuir el riesgo de complicaciones asociadas y mejorar su pronóstico.
Subject(s)
Humans , Male , Infant, Newborn , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/etiology , Clinical Evolution , Diabetes, Gestational , /complications , Syndrome , Sacrum/abnormalities , Cervical Vertebrae/abnormalitiesABSTRACT
Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption and remodeling. Dental abnormality may be attributed to pathological changes in bone remodeling. Osteomyelitis is well documented as a complication of osteopetrosis. This disease can be severe and difficult to treat in the osteopetrotic patient. This is a case of 10-year-old girl previously diagnosed as suffering from osteopetrosis and presenting with the complaint of swelling of jaw with extra-oral draining sinus.
Subject(s)
Abnormalities, Multiple/etiology , Child , Cutaneous Fistula/etiology , Female , Humans , Mandibular Diseases/etiology , Oral Fistula/etiology , Osteomyelitis/etiology , Osteopetrosis/complications , Pedigree , Tooth Abnormalities/etiologyABSTRACT
Caudal regression syndrome (SRC) is a disruption of development of distal spinal segments, which affects in most cases, the development of lumbar vertebrae and sacrum. The exact etiology is still unknown; however, it has been related to pre and maternal diabetes, genetics factors and diminished vascular supply. At this time, we present an extreme case of SRC; 4 months old boy, his mother is diabetic, poorly controled, who presents SRC with spinal cord to T2.
El síndrome de regresión caudal (SRC), es una alteración del desarrollo de los segmentos espinales distales, que afecta en la mayoría de los casos el desarrollo del sacro y vértebras lumbares. La etiología exacta aun no esta precisada, sin embargo, se ha relacionado con la diabetes previa y gestacional, factores genéticos y la hipoperfusión vascular. En esta ocasión, se presenta el caso de regresión caudal extrema de un paciente masculino, de 4 meses de edad a la fecha, hijo de madre diabética, mal controlada en embarazo, que presenta SRC con presencia de médula espinal hasta T2.
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/therapy , Sacrum/abnormalities , Lumbar Vertebrae/abnormalities , Abnormalities, Multiple/etiology , Spine/abnormalities , Diabetes Complications , Follow-Up Studies , Neural Tube Defects , Pregnancy in DiabeticsABSTRACT
OBJETIVO: O arqueamento das pernas geralmente é atribuído ao raquitismo causado pela carência de vitamina D; portanto, várias crianças afetadas acabam sendo classificadas erroneamente e tratadas inadequadamente. Este caso ilustra como uma avaliação clínica e radiológica cuidadosa pode levar à elucidação de sua causa. DESCRIÇÃO: Relatamos um caso esporádico de um menino de 2 anos de idade que apresentou achados radiológicos compatíveis com síndrome de Weismann-Netter-Stuhl. Além disso, observamos o complexo de malformação craniovertebral. O paciente possuía inteligência normal. Até onde sabemos, a combinação de síndrome de Weismann-Netter-Stuhl e occipitalização do atlas hipoplásico e posterior fusão das vértebras C2 e C3 nunca foi relatada antes. Descrevemos o diagnóstico da síndrome de Weismann-Netter-Stuhl. As características clássicas da síndrome de Weismann-Netter-Stuhl são baixa estatura, retardamento mental (em alguns indivíduos), calcificação da dura-máter e arqueamento anterior da tíbia. Todavia, acreditamos que um exame clínico e radiológico cuidadoso possa revelar dados mais contundentes que poderiam influenciar positivamente o processo de tratamento. COMENTARIOS: Presumimos que as limitações congênitas dos movimentos do pescoço em nosso paciente surgiram por causa da fusão acentuada do osso occipital ao atlas hipoplásico e da fusão simultânea da segunda e terceira vértebras. Portanto, se desconsiderarmos esse tipo de malformação, a estrutura atlanto-axial poderá ser comprometida, o que poderá causar complicações neurológicas sérias e até mesmo fatais. A tomografia tem um papel crucial na detecção dessas anormalidades.
Subject(s)
Humans , Male , Female , Child, Preschool , Abnormalities, Multiple/radiotherapy , Atlanto-Axial Joint/abnormalities , Bone Diseases, Developmental , Leg Length Inequality/etiology , Skull/abnormalities , Abnormalities, Multiple/etiology , Bone Diseases, Developmental/etiology , Fibula/abnormalities , Leg Length Inequality , Syndrome , Tomography, X-Ray Computed , Vitamin D DeficiencyABSTRACT
La Incontinentia Pigmenti es una condición rara, que afecta órganos y tejidos de origen ectodérmico y mesodérmico, asociado al cromosoma X dominante. Se manifiesta en el nacimiento o más tarde, con lesiones eritematosas en la piel. Puede afectar también pelo, uñas, ojos, sistema nervioso central y dientes. Las manifestaciones dentarias presentes se parecen a aquellas encontradas en la displasia ectodérmica y en la sífilis congénita: hipodoncia, microdoncia, retraso de la dentición, malformaciones y dientes impactados. Las alteraciones dentarias que se presentan en tal caso son típicas y comprenden agenesias, dientes conoides y disturbios en la erupción
Subject(s)
Humans , Female , Child , Abnormalities, Multiple/etiology , Abnormalities, Multiple/pathology , Chromosomes, Human, X/genetics , Diagnosis, Differential , Hyperpigmentation/etiology , BrazilABSTRACT
Horseshoe kidney with pyelic fusion and crossed single ureter is a rare anomaly, with only 3 cases described in the literature. Such anomaly can be accompanied by other abnormalities, such as congenital scoliosis and situs inversus totalis. We present one case of this malformation associated with malignant neoplasia, treated with partial nephrectomy.
Subject(s)
Adult , Female , Humans , Kidney Neoplasms/complications , Kidney/abnormalities , Sarcoma, Clear Cell/complications , Ureter/abnormalities , Abnormalities, Multiple/etiology , Abnormalities, Multiple/surgery , Kidney Neoplasms/surgery , Kidney Pelvis/abnormalities , Kidney/surgery , Nephrectomy , Sarcoma, Clear Cell/surgery , Tomography, X-Ray Computed , Treatment Outcome , Ureter/surgerySubject(s)
Abnormalities, Multiple/etiology , Female , Fetofetal Transfusion/complications , Humans , Infant, Newborn , Male , PregnancyABSTRACT
PURPOSE: To describe the ocular manifestations of congenital rubella syndrome (CRS), a common cause of congenital cataracts in developing countries. METHODS: Retrospective analysis of case records of 46 sero-positive infants under 12 months of age who presented at Aravind Eye Hospital, Madurai between July 1993 and February 2001. The ocular and systemic examination details were recorded. RESULTS: Both eyes were affected in 41 (89%) patients. Cataract was present in 81 (93.1%) eyes; most of them were nuclear cataract (79, 97.5%). Other common ocular presentations included microphthalmos in 74 (85.1%) eyes, iris abnormalities in 51 (58.6%) eyes, and pigmentary retinopathy in 33 (37.9%) eyes. Cataract, microphthalmos and iris hypoplasia was a common combination present in 49 (56.3%) eyes. Systemic manifestations included cardiac anomalies in 23 (50%) and neurological anomalies in 16 (34%) children. Multi-system involvement was present in 32 (70%) children. Low birth weight (below 2 kg) was seen in 30% infants. CONCLUSION: CRS may present with a wide spectrum of ocular and systemic findings and requires a high index of suspicion for diagnosis. Any sick infant with unilateral or bilateral congenital cataract should be investigated thoroughly for CRS.
Subject(s)
Abnormalities, Multiple/etiology , Cataract/etiology , Developing Countries , Female , Humans , India , Infant , Infant, Newborn , Iris Diseases/etiology , Male , Microphthalmos/etiology , Retrospective Studies , Rubella Syndrome, Congenital/complicationsABSTRACT
Amyoplasia congenita is a rare congenital disorder. Here such a case along with right sided inguinal hernia in 3-day-old male baby is presented with a brief review of literature. A 3-day-old male baby was presented with multiple bony deformities with right sided inguinoscrotal swelling since birth. It was diagnosed as a case of amyoplasia congenita along with a right sided inguinal hernia. The baby was managed with physiotherapy and right sided herniorrhaphy was done at 2 months and 2 days of age.
Subject(s)
Abnormalities, Multiple/etiology , Arthrogryposis/complications , Hernia, Inguinal/complications , Humans , Infant, Newborn , Male , Physical Therapy ModalitiesABSTRACT
El ácido retinoico es un conocido teratógeno. Con el advenimiento de la isotretinoína para el tratamiento acné, su uso se ha incrementado ampliamente y con ello el peligro de marformaciones fetales. Se comunica un caso fatal de embriopatía inducida por isotretinoína, indicada para el tratamiento del acné en una mujer de 23 años. Se realiza una revisión bibliográfica y se remarca la importancia de las medidas de prevención cuando se prescriben retinoides sistémicos a una mujer en etapa fértil
Subject(s)
Humans , Female , Infant, Newborn , Abnormalities, Multiple/etiology , Embryonic Structures , Isotretinoin/adverse effects , Abnormalities, Multiple/prevention & control , Cerebral Cortex/abnormalities , Intellectual Disability/etiology , Isotretinoin/standards , Facial Paralysis/etiology , Pregnancy/drug effects , Teratogens/standards , Tretinoin/adverse effectsABSTRACT
El síndrome de Sturge-Weber se caracteriza por una angiomatosis córticocerebral, nevo facial o mancha en "vino de oporto", calficicaciones cerebrales, epilepsia, afecciones oculares y retraso mental. Presente en ambos sexos por igual, de forma infrecuente y aparentemente sin influencia hereditaria. A nivel bucal se pueden observar lesiones angiomatosas capilares siguiendo el recorrido trigeminal. Las características radiográficas patognomónicas a nivel cerebral son áreas opacas, doblemente contorneadas simiilares a rieles de un tren, siguiendo las circunvalaciones cerebrales. La TAC, IRM, agiografía y la medicina nuclear son elementos de diagnóstico por imágenes utilizados en la actualidad
Subject(s)
Humans , Male , Adult , Diagnostic Imaging/methods , Sturge-Weber Syndrome/diagnosis , Sturge-Weber Syndrome/pathology , Sturge-Weber Syndrome , Angiography , Angiomatosis/etiology , Abnormalities, Multiple/etiology , Calcinosis/etiology , Magnetic Resonance Imaging/methods , Intellectual Disability/etiology , Mouth Mucosa/injuries , Tomography, X-Ray Computed/methods , von Hippel-Lindau Disease/diagnosisABSTRACT
We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.
Subject(s)
Humans , Male , Infant , Abnormalities, Multiple/etiology , Abortifacient Agents, Nonsteroidal/adverse effects , Misoprostol/adverse effects , Sleep Apnea Syndromes/congenital , Respiration, Artificial , SyndromeABSTRACT
Background: A higher prevalence of congenital malformations among twins than among single has been reported in the literature. Aim: To study the incidence of congenital malformations in twins in the maternity hospital of the University of Chile in the period 1983-1997. Material and methods: As part of the Latin American Collaborative Study of Congenital Malformations, every newborn in the maternity hospital was examined by a neonatologist and congenital malformations were recorded in a special file. Results: In the study period there were 48.663 deliveries of single pregnancies and 448 deliveries of twin pregnancies, giving birth to 886 twins borns alive and 17 stillbirths (1.9 percent mortality). Of these, there were 423 twins, 17 triplets, a sextuple delivery and two siamese. Seven point one percent of twins born alive and 6.5 percent of single newborns had a congenital malformation. The prevalence of malformations in twins and single stillbirths was 35.2 and 17.2 percent respectively (p <0.04). In four pairs and siamese newborns, malformations typical of monozygotic twins were present, such as an acardiac fetus with Trap sequence, a papyraceous fetus and two with hydroanencephaly. Twelve twins had malformations attributable to uterine compression. Conclusions: This study did not find a higher frequency of malformations comparing twins with single babies born alive, but in stillbirths there was a significant difference between single and twin stillbirths (7.1 percent versus 35.2 percent, respectively, p <0.05)
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Twin Studies as Topic , Abnormalities, Multiple/epidemiology , Prevalence , Delivery Rooms/statistics & numerical data , Diseases in Twins/etiology , Diseases in Twins/epidemiology , Fetal Death/epidemiology , Abnormalities, Multiple/etiology , Twins, Dizygotic/statistics & numerical data , Twins, Monozygotic/statistics & numerical dataABSTRACT
Introducción. La alteración autosómica por una formación en anillo del cromosoma 18 es una aberración poco frecuente que se encuentra en relación con malformaciones fenotípicas, aunadas a problemas neurológicos, anormalidades óseas en extremidades y deficiencia de hormona de crecimiento. Caso clínico. Se presenta un paciente masculino de 3 meses de edad con dismorfias craneofaciales treboliformes con suturas cerradas, frente amplia ovoide, comisuras palpebrales pequeñas y ambigüedad de genitales, extremidades con manos pequeñas, dedos sobrepuestos, pies pequeños, ortejos con sindactilia bilateral. El paciente presentó 2 líneas celulares, con una fórmula cromosómica en mosaico 46,XY/46,XY, r(18). La madre del paciente tiene también mosaico para el cromosoma en anillo. Conclusión. Dentro de las alteraciones cromosómicas, el anillo del cromosoma autosómico número 18 es rara, las principales alteraciones fenotípicas en este estudio estuvieron relacionadas con el desarrollo neurológico, genital y de las extremidades