This paper presents a unique 12-year case analysis of a girl with Penta-X syndrome, a chromosomal abnormality characterized by five X chromosomes instead of the normal two in healthy women. Pentasomy of X is a genetic, but not a hereditary disease affecting only women. Our patient demonstrated delayed mental, speech, and motor development along with physical anomalies such as craniofacial deformities, and eye pathology and was diagnosed with pentasomy of the X chromosome at the age of 3 after a cytogenetic examination. She developed epileptic seizures at the age of nine. Magnetic resonance imaging(MRI) revealed leukoencephalopathy with ventriculomegaly. The peculiarity of this observation is that the polysomy 49, XXXXX detected in the patient is characterized by a typical phenotypic presentation combined with demyelinating leukoencephalopathy, which has not been a typical feature of the disorder.

UNASSIGNED: To describe the oral finding, physical features and medical features with the genetic diagnosis of a Pentasomy X.
UNASSIGNED: A 6-year-old female patient was referred for oral evaluation presenting acute pain related to ulcers in the attached gingival and dorsum of tongue mucosa. Medical history revealed Pentasomy X associated with interatrial communication, convergent strabismus, recurrent seizures, dysautonomia, episodes of thrombosis and cognitive delay with limited oral communication skills. A palliative oral treatment was applied. Oral hygiene improvement and surveillance were decided considering the absence of dental hypersensitivity, post eruptive enamel breakdowns or dental caries. Less than 30 cases had been reported in the literature, reflecting the rare nature of this genetic disorder and with great difficulties to perform dental treatment. As regards the oral health status of these patients, with an emphasis on dental care, information is totally lacking.
UNASSIGNED: Oral care in patients with genetic syndromes must consider the status in general health to prevent medical complications associated with oral disease or dental treatment. Minimal intervention and surveillance are appropriate options in customized therapy.
UNASSIGNED: Describir los hallazgos orales, características físicas y médicas con el diagnóstico genético de una pentasomía X.
UNASSIGNED: Paciente de 6 años remitida para evaluación bucal por presentar dolor agudo relacionado con úlceras en la encía adherida y dorso de la lengua. La historia clínica reveló pentasomía X asociada con comunicación interauricular, estrabismo convergente, convulsiones recurrentes, disautonomía, episodios de trombosis y retraso cognitivo con habilidades limitadas de comunicación oral. Se aplicó un tratamiento oral paliativo. Se decidió la mejora de la higiene oral y la vigilancia considerando la ausencia de hipersensibilidad dental, fracturas de esmalte poseruptivas o caries dental. Se han reportado menos de 30 casos en la literatura, lo que refleja la naturaleza rara de este trastorno genético y con grandes dificultades para realizar el tratamiento odontológico. En cuanto al estado de salud bucal de estos pacientes, con énfasis en el cuidado dental, la información es poca.
UNASSIGNED: El cuidado bucal en pacientes con síndromes genéticos debe considerar el estado de salud general para prevenir complicaciones médicas asociadas con enfermedades bucales o tratamientos odontológicos. La intervención mínima y la vigilancia son opciones apropiadas en la terapia personalizada.

This report describes an exceptional case of X (49, XXXXX) pentasomy in a girl aged three years and five months. She was admitted for recurrent seizures revealing epilepsy. She has growth failure and psychomotor retardation with a deformed face. The malformative assessment did not show any malformation apart from cerebral leukodystrophy. Pentasomy X is a very rare abnormality of the sex chromosomes. It only affects females, in whom three additional X chromosomes are added to the two X normally present. The pathogenesis of pentasomy X is not exactly clear, but it is probably caused by successive maternal nondisjunctions. Epilepsy and cerebral leukodystrophy are a new mode of revelation of this syndrome, never described in the literature.

The prenatal abnormalities in patients with penta X syndrome appear late in pregnancy and are nonspecific. In contrast, the postnatal phenotype is well described although new findings are still revealed. Penta X syndrome is a result of successive nondisjunctions of the X chromosomes in both maternal meiotic divisions.

OBJECTIVE: Individuals with sex chromosome aneuploidies (SCAs) are born with an atypical number of X and/or Y chromosomes, and present with a range of medical, developmental, educational, behavioral, and psychological concerns. Rates of SCA diagnoses in infants and children are increasing, and there is a need for specialized interdisciplinary care to address associated risks. The eXtraordinarY Kids Clinic was established to provide comprehensive and experienced care for children and adolescents with SCA, with an interdisciplinary team composed of developmental-behavioral pediatrics, endocrinology, genetic counseling, child psychology, pediatric neuropsychology, speech-language pathology, occupational therapy, nursing, and social work. The clinic model includes an interdisciplinary approach to care, where assessment results by each discipline are integrated to develop unified diagnostic impressions and treatment plans individualized for each patient. Additional objectives of the eXtraordinarY Kids Clinic program include prenatal genetic counseling, research, education, family support, and advocacy.
METHODS: Satisfaction surveys were distributed to 496 patients, and responses were received from 168 unique patients.
RESULTS: Satisfaction with the overall clinic visit was ranked as \"very satisfied\" in 85%, and as \"satisfied\" in another 9.8%. Results further demonstrate specific benefits from the clinic experience, the importance of a knowledgeable clinic coordinator, and support the need for similar clinics across the country. Three case examples of the interdisciplinary approach to assessment and treatment are included.