cryptorchidism/эпилептический припадок

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Association of seizure, facial dysmorphism, congenital umbilical hernia and undescended testes.

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With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism

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

Ring chromosome 18 in a child with febrile seizures.

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Ring chromosomes are uncommon cytogenetic findings but have meanwhile been reported for nearly all human chromosomes. Among the rare observations of ring chromosomes in man, the diagnosis of ring chromosome 18 represents a prominent group. We here describe on the cytogenetic analysis results

A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

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Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation,

Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome.

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A patient with multiple congenital malformations, including imperforate anus, bilateral cryptorchidism and microphallus, is described. At 4 months of age the infant had generalized convulsions and hypoglycaemia. Bilateral hydronephrosis was diagnosed at 8 months of age. At 10 months he was diagnosed

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

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We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis,

Tuberous sclerosis: a rare cause of seizure in Nigeria.

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BACKGROUND Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. Dermatologic manifestations may be the only clues to the diagnosis of the disorder, which is also marked by childhood seizures and mental retardation. The aim of this report is to

Cryptorchidism in Boys With Cerebral Palsy Is Associated With the Severity of Disease and With Co-Occurrence of Other Congenital Anomalies.

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UNASSIGNED Cryptorchidism is reported in 40-50% of small case series of cerebral palsy (CP) and attributed to hypothalamic-pituitary-gonadal axis abnormalities, intellectual disability (ID), or cremaster spasticity. We collected demographic and clinical data to define the frequency of cryptorchidism

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

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The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia,

Microcephaly with large anterior fontanelle, generalized convulsions, micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome?

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Wiedemann et al. (1985) described a rare syndrome characterised by microcephaly, psychomotor delay, short stature, short fingers and toes with stubby broad thumbs and halluces. Unilateral undescended testis, inguinal hernias, scrotal hypoplasia, and micropenis were also features. They described two

[Distal 1q monosomy. 2 new cases and description of the syndrome].

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In two unrelated girls, each with severe mental deficiency and craniofacial dysmorphism, deletion of chromosome segment 1q4 had occurred de novo. These two observations together with seven others from the literature allow delineation of a syndrome, as follows. Growth retardation is marked at birth

Further delineation of the C (trigonocephaly) syndrome.

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This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick

An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease.

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We studied 2 of 4 affected boys with a new disease associated with abnormalities of copper metabolism. The four cases occurred in two generations of a family. This syndrome was similar to Menkes disease in some respects: X-linked recessive inheritance, marked psychomotor retardation with seizures,

Two cases of Sotos syndrome with novel mutations of the NSD1 gene.

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Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome. Fluorescent in situ hybridization analysis (FISH), MLPA or multiplex quantitative PCR allow detection of total/partial NSD1 deletions and direct sequencing allows detection

KBG syndrome in a cohort of Italian patients.

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KBG syndrome comprises a distinct facial phenotype, macrodontia, short stature, and skeletal anomalies. So far, it has been reported in 29 individuals. Recently, diagnostic criteria were outlined. Here, we describe eight new patients whose clinical and radiological findings fit the diagnostic

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