Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two probably monozygotic twins with cerebral gigantism are reported. They showed three typical features: pneumo-encephalography demonstrated a fifth anterior ventricular dilatation; in both patients dermatoglyphic findings showed a thenar exit of the Aline and a vertical palmar alignement; Growth hormone and sulfatation factor blood concentration were low but within normal limits.
 ...
PMID:[Cerebral gigantism in twins]. 103 70

In 1964, Sotos and co-workers defined a syndrome of advanced height and bone maturation, dating from birth, mental deficiency and unusual craniofacial appearance with acromegaloid features. About 200 cases have subsequently been reported, more often in males. Occurrence is sporadic, but inheritance may be dominant autosomal. The aetiology is unknown. A two- and a half-year-old boy with Sotos's syndrome is described. He was the first-born child of non-sanguineous healthy parents. The family history revealed no congenital abnormalities and no mental retardation. The proband was born at 36 weeks of gestation with a weight of 4100 g (> P97), length of 53 cm (> P90) and occipital-frontal circumference of 36 cm. His postnatal sornatic linear growth was excessive taking a curve above the 97th percentile. Skeletal maturation and bone age were accelerated. Premature eruption of teeth was observed. Clinical features included macroencephaly, dolichocephaly with a prominent forehead, down-slanting palpebral fissures, hypertelorism, high-arched palate and large hands and feet. His mental deficiency was mild (IQ = 60) with delay of early psychomotor development and expressive language. His karyotype was normal. The CT brain scans revealed mild ventricular dilatation and some cortical atrophy. Electroencephalographic records showed localised theta activity. Endocrinological and metabolic studies failed to show andy definite abnormality.
 ...
PMID:[Soto's syndrome (cerebral gigantism)]. 910 12

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 a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.
 ...
PMID:Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. 1069 Feb 61