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hypospadias/seizures
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Pagina 1 a partire dal 35 risultati
New syndrome associated with partial deletion of short arms of chromosome No. 4. Clinical manifestations of hypospadias, beaked nose, abnormal iris, hemangioma of forehead, seizures, and other anomalies.
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Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.
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Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.
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We describe a small, term, male infant with corticospinal tract aplasia secondary to motor cortex dysplasia from a neuronal proliferation and/or migrational defect. The infant also had microdolichocephaly, sloping forehead, hypertelorism, flat nose, apparently low-set ears, micrognathia,
X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.
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BACKGROUND
X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children
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,
Brachmann-de Lange syndrome. 1994 update.
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OBJECTIVE
To update the phenotype, cause, mode of inheritance, and certainty of the diagnosis of Brachmann-de Lange syndrome.
METHODS
Case series with comparative review of pertinent literature.
METHODS
A tertiary university-based pediatric genetic clinic.
METHODS
All 37 children with Brachmann-de
Effects of lacosamide "a novel antiepileptic drug" in the early stages of chicken embryo development.
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BACKGROUND
Antiepileptic drugs (AEDs) are teratogens and confer a risk of congenital malformation. The estimated prevalence of major congenital malformations such as cardiac defects, facial clefts, hypospadias, and neural tube defects in epileptic women is 4-10 %, which represents a two- to fourfold
[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
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.
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Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia,
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
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Clinical characteristics: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID).
The FG syndrome: report of a large Italian series.
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Initially described as a rare MCA/MR syndrome occurring only in boys, due to a recessive mutation on the X chromosome [Opitz and Kaveggia, 1974], the FG syndrome (FGS) now emerges as a more common disorder also occurring in girls. Based on over 50 reported cases, FGS is associated with developmental
FG syndrome update 1988: note of 5 new patients and bibliography.
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At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. It is an X-linked, incompletely recessive, complexly pleiotropic syndrome with considerably variable
Schinzel-Giedion syndrome: further delineation of the phenotype.
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We describe a male infant with findings typical of Schinzel-Giedion syndrome. Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. The patient suffered from seizures and died at 14 months of
4p- phenotype in an infant with t(4p-;19p or q+)mat translocation.
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Four family members had an apparently balanced t(4p-;19p or q+) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
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Normal development of the genitourinary (GU) tract is a complex process that frequently goes awry. In male children the most frequent congenital GU anomalies are cryptorchidism (1-4%), hypospadias (1%) and micropenis (0.35%). Bladder exstrophy and epispadias complex (BEEC) (1∶47000) occurs less
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