hydronephrosis/seizures

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

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 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

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

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

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.

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.

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

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

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

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

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

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

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