RESUMEN
Joubert syndrome is a rare neurological manifestation usually present in late infancy or early childhood with characteristic episodes of abnormal breathing pattern along with the neurological and other systemic involvement.We report a case of confirmed Joubert syndrome present in the immediate neonatal period with isolated spells of oxygen desaturations not accompanied by the classically described breathing pattern and absent neurological symptoms causing delay in the diagnosis. Isolated oxygen desaturation episodes could be a presenting manifestation of Joubert syndrome in a neonatal period.
Asunto(s)
Anomalías Múltiples , Encéfalo/diagnóstico por imagen , Cerebelo/anomalías , Anomalías del Ojo , Hipoxia/diagnóstico , Enfermedades Renales Quísticas , Retina/anomalías , Taquipnea/diagnóstico , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/fisiopatología , Anomalías Múltiples/psicología , Análisis de Varianza , Cerebelo/fisiopatología , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/psicología , Diagnóstico Diferencial , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/fisiopatología , Anomalías del Ojo/psicología , Medidas del Movimiento Ocular , Humanos , Recién Nacido , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/fisiopatología , Enfermedades Renales Quísticas/psicología , Masculino , Examen Neurológico/métodos , Pronóstico , Retina/fisiopatología , Índice de Severidad de la Enfermedad , Evaluación de Síntomas/métodosRESUMEN
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism. This is the first report of a patient with partial trisomy 4p and partial monosomy 13q.
Asunto(s)
Anomalías Múltiples/genética , Trastornos de los Cromosomas/genética , Enfermedades en Gemelos/genética , Retardo del Crecimiento Fetal , Complicaciones Neoplásicas del Embarazo/cirugía , Trisomía/genética , Deleción Cromosómica , Cromosomas Humanos Par 13/genética , Cromosomas Humanos Par 4/genética , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Complicaciones Neoplásicas del Embarazo/tratamiento farmacológico , Diagnóstico PrenatalRESUMEN
Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia characterized by severe hypomineralization of the skull, absent medullary lucency flared metaphyses fishbone-like diaphysis and overtubulated long vones. Dysmorphic features included flat facies, bulging forehead, vevus flammeus, depressed nasas bridge, short philtrum, inverted U-shape mouth, mild micrometic dwarfism, and brachydactyly. The infant's lungs and spleen were hypoplastic. The findings are compatible with the 19 previously reported cases that used different terminology: osteocraniostenosis, gracile bone disorders and osteocraniosplenic syndrome. We present the clinical, pathological and cytogenetic findings of this rare disorder.
Asunto(s)
Anomalías Múltiples/patología , Enfermedades del Desarrollo Óseo/patología , Anomalías Craneofaciales/patología , Síndromes de Inmunodeficiencia/patología , Cráneo/patología , Bazo/anomalías , Retardo del Crecimiento Fetal/patología , Humanos , Recién Nacido , Enfermedades de Inmunodeficiencia Primaria , Bazo/patología , SíndromeRESUMEN
The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been linked with the Tbx1 gene mutation located on the long arm of chromosome 22(22q11.21). We report a case with 1.4 Mb 22q11.23 duplication detected by array-CGH. The father of this infant has the same interstitial microduplication but with a normal phenotype. The phenotype seen in our case is type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect. Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.