hydronephrosis/ataque epiléptico

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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

Prenatal diagnosis of fetal seizure: a case report.

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A 35-yr-old woman carrying a 17-week-old fetus presented with right hydronephrosis and a single umbilical artery. Karyotyping was normal and targeted ultrasonography showed an otherwise normal fetus. After 28 weeks of gestation, the mother felt rapid, repetitive fetal movement and an ultrasound at

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

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Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

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Fryns syndrome (FS) is a rare early lethal autosomal recessive disorder. The diagnosis is clinical since the underlying molecular defect is currently unknown. We report on a 6-year-old male child displaying an association of congenital diaphragmatic hernia (CDH), lung hypoplasia, corneal clouding

Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome.

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The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental retardation. To date, 16 cases of the syndrome have been documented in the literature. We present two sisters who died in early infancy with the

The spectrum of the DiGeorge syndrome.

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Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea.

Two cases of CHARGE syndrome with multiple congenital anomalies.

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We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises.

Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development.

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We report on 2 brothers from a consanguineous Moslem family with prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and convulsions from birth. Phenotypic anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, a small pinched nose, large

Complications of epilepsy and a ruptured pyonephrosis: radiology to the rescue in the Brooks murder case.

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A woman and her lover were accused of murdering the woman's husband. Five weeks after fracture/dislocations of both shoulders and a central fracture/dislocation of the right hip were diagnosed the woman's husband died of septicaemia consequent on a ruptured infected hydronephrosis. The shoulder and

Somatic findings in patients with psychogenic polydipsia.

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An epidemiologic investigation found a 17.5% prevalence of psychogenic polydipsia in 241 hospitalized psychiatric patients. A randomly selected sample of 10 polydipsic patients revealed such associated disorders as sporadic convulsive seizures, comatose states, hydronephrosis, enuresis/urinary

Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia.

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Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and

Prenatal sonographic monitoring of idiopathic megacystis.

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This case report is of a female fetus diagnosed with severe idiopathic megacystis at 21 weeks of pregnancy. Sonographic monitoring demonstrated normal amniotic fluid volume and renal structures, absence of hydronephrosis, ureteral dilation, and associated abnormalities. Conservative management was

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.

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X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and

Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant?

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We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and

GeneReviews®

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Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and

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