الملخص
Resumen: Introducción: La hipoplasia dérmica focal o síndrome de Goltz es una rara genodermatosis de herencia dominante ligada al X, que afecta al tejido proveniente de las placas del ectodermo y del mesodermo. El cuadro clínico se caracteriza por alteraciones cutáneas, oftálmicas, neurológicas, dentales, ungueales, bucales, de tejidos blandos y esqueléticas. El diagnóstico se realiza por los hallazgos clínicos en un individuo con alteraciones ectodérmicas y malformaciones características en las extremidades. El manejo es multidisciplinario y, al igual que el pronóstico, depende de las alteraciones específicas que presente cada paciente. Caso clínico: Se presenta el caso de un recién nacido de sexo femenino, de 15 días de vida, con zonas de alopecia en piel cabelluda, herniación de tejido celular subcutáneo en varias áreas de todos los segmentos corporales, escotadura en ala nasal, hendidura en encía superior, defecto grave de extremidad superior izquierda con rizomelia (acortamiento de segmento proximal) y aplasia de radio, así como ectrodactilia de miembro pélvico derecho. Todos los hallazgos son compatibles con hipoplasia dérmica focal de acuerdo con los criterios diagnósticos. Conclusiones: Se presenta el caso de una paciente recién nacida con síndrome de Goltz.
Abstract: Background: Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is based on clinical findings and is suspected in individuals with ectodermal abnormalities and characteristic malformations in the extremities. The management is multidisciplinary and, like the prognosis, depends on the specific alterations that each patient presents. Case report: We report the case of a 15-day-old female newborn with alopecic areas on the scalp, herniation of subcutaneous cellular tissue at the lumbar level, nasal wing notch, severe left superior limb defect with rhizomelia (proximal segment shortening) and radio aplasia, as well as right leg ectrodactyly, areas of atrophy compatible with focal dermal hypoplasia according to diagnostic criteria. Conclusions: We present a case of female newborn patient with Goltz syndrome.
الموضوعات
Female , Humans , Infant, Newborn , Focal Dermal Hypoplasia/diagnosis , Limb Deformities, Congenital/etiology , Prognosis , Focal Dermal Hypoplasia/physiopathologyالملخص
Proximal focal femoral deficiency is an uncommon congenital deformity characterized by defective morphogenesis of the proximal femur resulting in shortening of the affected limb. Incidence being 1/50000 to 1/200,000 populations. The etiology is unknown and idiopathic. Often the diagnosis is made by radiological evaluation, which helps in identifying and evaluation of associated limb anomalies. When in doubt magnetic resonance imaging help to find out whether the cartilaginous femoral head is present or not. Usually a disorder is unilateral, but bilateral involvement is seen rarely. May be associated with other anomalies like cleft palate, spinal anomalies, and congenital heart defects. Treatment goals being satisfactory ambulation and specific treatment depending on the age of presentation and severity of dysplasia.
الموضوعات
Female , Femur/abnormalities , Humans , Infant , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/epidemiology , Limb Deformities, Congenital/etiology , Limb Deformities, Congenital/therapyالملخص
Fetal valproate syndrome [FVS] is a well-recognized constellation of dysmorphic features, and neurodevelopmental retardation that results from prenatal exposure to the anticonvulsant valproic acid. In this report, we describe a case with typical features of FVS. A 23-year-old lady with post-traumatic epilepsy controlled by sodium valproate [Depakene] 500 mg twice daily throughout pregnancy as monotherapy, gave birth to a female baby with facial features characteristic of FVS, and severe radial ray reduction. She also had wide-spaced nipples and short neck, features not described before. Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in severe limb deformities, craniosynostosis, neural tube defects and neurodevelopmental retardation. Therefore, we recommend that valproic acid must be avoided during pregnancy, as new generation of anticonvulsant drugs have emerged into the market
الموضوعات
Humans , Female , Fetus/abnormalities , Epilepsy, Post-Traumatic/drug therapy , Pregnancy/drug effects , Teratogens , Limb Deformities, Congenital/etiology , Craniosynostoses/etiology , Neural Tube Defects/etiology , Phenotypeالملخص
Se presenta un caso de síndrome de Brida amniótica que es una malformación congénita caracterizada por la formación de bandas fibrosas derivadas del amnios y que comprimen y estrangulan partes fetales especialmente cráneoencefálicas y de las extremidades. La etiopatogenia es desconocida y se descarta la participación de factores genéticos. Las formas menores son susceptibles de fetocopia y compatibles con la sobrevida. Las formas severas son incompatibles con la vida.
الموضوعات
Male , Humans , Female , Pregnancy , Infant, Newborn , Limb Deformities, Congenital/etiology , Amniotic Band Syndrome/diagnosis , Amniotic Band Syndrome/physiopathology , Craniofacial Abnormalities/etiology , Umbilical Cord/abnormalities , Abdominal Wall/abnormalities , Amniotic Band Syndrome/complications , Amniotic Band Syndrome/epidemiology , Viscera/abnormalitiesالملخص
A case of Limb body wall complex is reported in a preterm, Low birth weight and stillborn neonate. The proposita had abdominal wall defect with evisceration of the organs into an amnio-peritonial sac, a short body stalk, torsion of spine with scoliosis and limb defects. Unusual associations present in this case were absent thymus, interstitial calcification in kidney and a history of exposure to birth control pills during first two months post-conception.
الموضوعات
Abdominal Muscles/abnormalities , Abnormalities, Multiple , Adult , Contraceptives, Oral , Female , Fetal Death , Humans , Limb Deformities, Congenital/etiology , Maternal-Fetal Exchange , Pregnancyالملخص
El raquitismo hipofosfatémico es una alteración metabólica transmitida genéticamente (ligada al cromosoma X) en donde disminuye la reabsorción de fosfato en el túbulo proximal. Esta enfermedad se manifiesta con defectos en la mineralización de los tejidos esquelético y dentario. El caso clínico presentado en este artículo corresponde a un niño de 8 años de edad con eta alteración en la que se observan deformidades en las extremidades inferiores (piernas arqueadas), disminución de su talla y bucalmente en los tejidos blandos, se aprecia gingivitis generalizada y sondajes periodontales no mayores de 2 mm. En el aspecto dentario existe una relación molar en clase II de Angle, con pérdida prematura de los molares temporales y por consecuencia, erupción prematura de los premolares permanentes. Debido a la asociación con la deficiente formación dentaria y la historia familiar, podríamos suponer una asociación entre raquitismo hipofosfatémico y las periodontitis de inicio precoz
الموضوعات
Humans , Male , Child , Hypophosphatemia, Familial/complications , Hypophosphatemia, Familial/diagnosis , Jaw Diseases/etiology , Tooth Abnormalities/etiology , Musculoskeletal Abnormalities/etiology , Musculoskeletal Abnormalities/genetics , Chile , Limb Deformities, Congenital/etiology , Limb Deformities, Congenital/genetics , Hypophosphatasia/diagnosis , Hypophosphatasia/etiology , Malocclusion, Angle Class II/etiology , Patient Care Team , Tooth Loss/etiologyالملخص
Se presentó un caso de anomalías musculoesqueléticas y cardiopatía congénita con acortamiento del miembro superior izquierdo y CIA, ausencia de pulgares en ambas manos asociado a hombros estrechos tipo foramen oval. Se realizaron exámenes complementarios que confirman el diagnóstico clínico. En el síndrome de Holt y Oram se señala herencia autosómica dominante y al no encontrar antecedentes familiares en nuestro caso, se planteó una mutación genética como causa de la aparición aislada de este síndrome