syndactyly/seizures

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[A case of hypothalamic hamartoma with gelastic seizures, precocious puberty, poly- and syndactyly].

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We reported a 6-month-old boy, patient of hypothalamic hamartoma with a rare association of poly- and syndactyly, which developed gelastic seizures and precocious puberty. His birth was complicated by poly- and syndactyly in both hands and polydactyly in both feet, but other physical signs were

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

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We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.

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Using whole-exome sequencing, we identified a homozygous acceptor splice-site mutation in intron 6 of the KATNB1 gene in a patient from a consanguineous Turkish family who presented with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. cDNA analysis

Infantile convulsions: transient infantile hypocalcemia associated with skeletal deformities.

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An infant with skeletal deformities and hypocalcemic convulsions is described. The convulsions, which were first noted in the 5th week of life, as well as the low serum calcium level were transient. The skeletal deformities consited of deformation of the terminal phalanges of the right third finger

Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.

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A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

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We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.

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NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly. All reported variants are located

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

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Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. Splawski et al. [2004] previously described two phenotypes associated with TS distinguished by two unique and

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.

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Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient with megalencephaly, polymicrogyria, and

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study.

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Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG,

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

Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.

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We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

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Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability,

Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

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A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth

Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.

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BACKGROUND Phylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments. Associated extracutaneous anomalies include cerebral, ocular, and skeletal defects. Recently it has been

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