microcephaly/epilepsziás roham

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A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.

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Belépés Regisztrálás

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with

Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.

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We report on a 4-year-old boy with short stature, microcephaly, BNS (Blitz-Nick-Salaam) seizures, and global developmental delay. In addition, small and fleshy hands and feet as well as hypoplastic scrotum and testes were observed. The clinical features of the patient are compared with the patients

5p14 deletion associated with microcephaly and seizures.

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We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence

A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.

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A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition.

ASPM mutations identified in patients with primary microcephaly and seizures.

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BACKGROUND Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has

Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities.

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We present two male sibs with a series of malformations including microcephaly, mental retardation, congenital heart disease, skeletal abnormalities, micropenis, and mild hypothyroidism. Both have had seizures. While the pattern of abnormalities is similar to that previously reported in this journal

[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome].

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We report the observations of three sisters with the same autosomal recessive syndrome characterized by growth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.

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We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and

Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.

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Belépés Regisztrálás

Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

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We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features including microcephaly, sparse hair, bilateral epicanthal folds, ataxia, seizures, and elevated lactate and

Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings.

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We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting

Autosomal recessive microcephaly with early onset seizures and spasticity.

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We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of congenital microcephaly. The clinical syndrome is characterized by early onset myoclonic seizures, spasticity, and profound psychomotor retardation without detectable brain

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.

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In males, duplication of a portion of Xq is associated with multiple congenital anomalies and developmental delay. Most females recognized as having dup(Xq) are phenotypically apparently normal relatives of phenotypically abnormal males; phenotypic normalcy has been attributed to selective

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).

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We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole exome sequencing performed in one of the boys revealed the presence of a novel homozygous missense

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

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β-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway. A total of 28 cases have been reported, mainly presenting with seizures,

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