ABSTRACT
El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.
The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.
Subject(s)
Humans , Male , Child , Abnormalities, Multiple/diagnosis , Brain Neoplasms/complications , Hand Deformities/complications , Tracheoesophageal Fistula/complications , Angiolipoma/complications , Klippel-Feil Syndrome/complications , Thumb/abnormalities , Brain Neoplasms/diagnosis , Hand Deformities/diagnosis , Tracheoesophageal Fistula/diagnosis , Angiolipoma/diagnosis , Klippel-Feil Syndrome/diagnosisABSTRACT
A forma atípica e mais severa da síndrome Mayer-Rokitansky-Kuster-Hauser (MRKH) ou MRKH tipo II é também conhecida como associação de MURCS, cujo mnemônico significa aplasia/hipoplasia mülleriana (MU), malformação renal (R) e displasia cervicotorácica (CS). Acomete pacientes do sexo feminino com cariótipo e função ovariana normais, acarretando amenorreia primária. Apresenta incidência de 1:50.000, subestimada pelo diagnóstico tardio e etiologia mal definida. Descrevemos um caso em criança e outro em adolescente, com o objetivo de predizer o diagnóstico ainda na infância, antes da instalação do quadro de amenorreia; as pacientes apresentavam em comum malformação renal, agenesia ou hipoplasia de derivados müllerianos e anomalias vertebrais, configurando o diagnóstico de MURCS. A relevância do estudo é mostrar a necessidade de prosseguir a investigação na presença de algum dos sinais da doença, pesquisando anormalidades correlatas, a fim de se estabelecer o diagnóstico precocemente e, consequentemente, orientar pacientes e seus familiares quanto à melhor forma de condução do caso, incluindo aconselhamento genético.
The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling.
Subject(s)
Child , Female , Humans , Abnormalities, Multiple/diagnosis , /complications , /diagnosis , Klippel-Feil Syndrome/complications , Kidney/abnormalities , Mullerian Ducts/abnormalities , Uterus/abnormalities , Vagina/abnormalitiesABSTRACT
Poland Syndrome is a congenital defect characterized by a unilateral absence of the clavicular and stem costal portion of the pectoral muscles associated to abnormalities of other muscles of the thoracic wall, ribs, breast and upper extremity. It is found in one of 20 to 32 thousand newborns. It is found sometimes associated to other syndromes, most often with Moebius Syndrome, and rarely with Goldenhar and Klippel-Feil. Due to the association, a common pathogenic cause has been postulated, that being an anomaly of vascularization during embryonic development. Clinical Case: A newborn male was seen who presented with Poland, Goldenhar, Moebius and Klippel-Feil Syndromes. Clinically, he presented left hemi facial microsomy, microtia, shortening and paralysis of the facial nerve; his neck was short and movement was limited due to C4-C5 fusion; agenesis of left pectorals, hypoplasia of left radius and hand. There were no known additional family cases, being thus, a sporadic syndromatic association.
Introducción: El síndrome de Poland es un defecto muscular congénito, heterogéneo, caracterizado por ausencia unilateral de las porciones clavicular y/o esternocostal del músculo pectoral mayor, que se puede asociar a compromiso de otros músculos de la pared torácica, costillas, mama y extremidad superior. Se presenta con una frecuencia entre 1/20 000 al/32 000 nacidos. El síndrome de Poland se presenta en algunas ocasiones asociado a otros síndromes, siendo clásica con el síndrome de Moebius. Excepcionalmente se ha descrito la aparición conjunta con otros síndromes como Goldenhar y Klippel-Feil. Por la relación que existe entre ellos se plantea una patogenia común: anomalía en la vascularización, durante el desarrollo embrionario. Caso Clínico: Paciente de sexo masculino, con asociación sindromática de Poland, Goldenhar, Moebius y Klippel-Feil. Como características clínicas presenta a izquierda microsomia hemifacial, microtia, acortamiento de rama mandibular y parálisis facial; cuello corto y limitación de movimientos por fusión de C4-C5; agenesia del pectoral mayor izquierdo, hipoplasia de radio y mano izquierda. Sin antecedentes familiares, se trataría de un caso esporádico de asociación sindromática.
Subject(s)
Humans , Male , Child , Goldenhar Syndrome/diagnosis , Klippel-Feil Syndrome/diagnosis , Mobius Syndrome/diagnosis , Poland Syndrome/diagnosis , Subclavian Artery/abnormalities , Goldenhar Syndrome/complications , Goldenhar Syndrome/embryology , Klippel-Feil Syndrome/complications , Klippel-Feil Syndrome/embryology , Mobius Syndrome/complications , Mobius Syndrome/embryology , Poland Syndrome/complications , Poland Syndrome/embryologyABSTRACT
We review our experience with the management and perinatal outcome in three cases of isolated fetal ascites detected prenatally at the San Camilo Hospital, San Felipe, Chile, in a period of seven years. Two cases were confirmed as being the result of meconium peritonitis and the remaining to a Klippel-Feil syndrome. We conclude that the detection of transient isolated fetal ascites warrants a close surveillance of the neonate looking for signs associated with intestinal rupture and non-chromosomal genetic syndromes.
Se presenta nuestra experiencia con el manejo y resultados perinatales de 3 casos de ascitis fetal aislados diagnosticados prenatalmente en el Hospital San Camilo, San Felipe, durante un período de 7 años. Dos casos correspondieron a peritonitis meconial y uno a un síndrome de Klippel-Feil. Se concluye que la detección de ascitis fetal aislada, aunque sea transitoria, obliga a realizar una observación acuciosa de la evolución neonatal, ya que puede ser el único indicio prenatal de una perforación intestinal o algún síndrome genético no cromosómico.
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Adult , Ascites , Fetal Diseases , Ascites/surgery , Ascites/etiology , Fetal Diseases/surgery , Meconium , Peritonitis/complications , Klippel-Feil Syndrome/complications , Ultrasonography, PrenatalABSTRACT
Fetal vascular disruptions can cause specific patterns of birth depending on the location, extent and timing of the disruptive event in the embryonic life. An example of this is subclavian artery supply disruption sequence occurring around 6 weeks of gestation which causes various combinations of Poland, Klippel-Feil and Mobius anomalies. A one-month-old child with features of all three anomalies along with other associated features is described here.
Subject(s)
Humans , Infant, Newborn , Klippel-Feil Syndrome/complications , Male , Mobius Syndrome/complications , Poland Syndrome/complications , Subclavian Artery/abnormalitiesABSTRACT
A posterior fossa dermoid cyst in association with the Klippel-Feil syndrome, in a 4 year old child is reported. Early diagnosis to prevent complications like neural compression, cyst rupture and staphylococcal meningitis justifies investigation for posterior fossa dermoids in cases of Klippel-Feil syndrome. Their embryological basis is discussed.
Subject(s)
Brain Neoplasms/complications , Child, Preschool , Cranial Fossa, Posterior , Dermoid Cyst/complications , Humans , Klippel-Feil Syndrome/complications , MaleABSTRACT
Las anomalías congénitas del hueso temporal son bastante variables, tanto desde el punto de vista anatómico como en lo que se refiere al tipo y severidad de la sordera resultante. En este caso se presentan dos pacientes pediátricos de 2 y 3 años, que presentaban meningitis a repetición de causa no determinada. La TC permitió descubrir la patología causante de las afecciones en estos pacientes y fue decisiva en el diagnóstico del origen de las meningitis a repetición que presentaban. En los pacientes pediátricos que presentaban meningitis a repetición es importante considerar en primera instancia a los procesos fistulosos como los causantes de esta patología. Dentro de los huesos que pueden presentar estas fístulas se encuentran el peñasco, el cual no debe ser dejado de lado en el examen clínico de estos pacientes. Las fístulas de peñasco vienen asociadas con malformaciones de oído interno y el método de imagen por excelencia para su evaluación sigue siendo la tomografía computada
Subject(s)
Humans , Male , Female , Child, Preschool , Cochlea/abnormalities , Ear, Inner/abnormalities , Meningitis, Bacterial/etiology , Meningitis/etiology , Petrous Bone , Klippel-Feil Syndrome/complications , Meningitis, Bacterial/diagnosis , Meningitis/diagnosis , Petrous Bone/abnormalities , Recurrence , Temporal Bone/abnormalities , Tomography, X-Ray Computed/methodsABSTRACT
Wildervanck syndrome i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (deafness) is a rare syndrome. We report here 4 cases diagnosed as Wildervanck syndrome and analyse their findings. One patient had an an atrial septal defect. Such association of congenital heart disease with Wildervanck syndrome has not been reported previously.
Subject(s)
Abnormalities, Multiple/diagnosis , Child , Deafness/congenital , Eye Abnormalities/diagnosis , Eye Movements , Female , Humans , Infant , Infant, Newborn , Klippel-Feil Syndrome/complications , Male , SyndromeABSTRACT
Se presenta el caso de una I.P. asociada a S. de K.F. en una niña de 16 años. Se señalan todas las anomalías que tienen en común ambas entidades y la posibilidad de que algunos casos de la literatura tengan este tipo de asociación no detectado a causa de la corta edad de los pacientes que hace difícil la identificación del cuello corto o del pterigium colli característico del síndrome de K.F.