The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
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Adult↗
Biomedical subjects
J Burn
Publications and source records attributed to J Burn.
Transmission of Proteus syndrome from father to son?
We present a male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi. A diagnosis of Proteus syndrome was made. His father had had a large lymphangioma resected from the right side of the face as a child. We propose that Proteus syndrome has been transmitted from father to son.
Adult↗
The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations.
A polyposis register has been established in the Northern Region of England. A total of 48 families with 71 living affected subjects has been identified during the first three years of operation, a prevalence of 2.29 x 10(-5). Indirect ophthalmoscopy identifies the majority of gene carriers by showing multiple areas of congenital hypertrophy of the retinal pigment epithelium (CHRPE). The absence of this sign in families limits its value where a relative with CHRPE has not been identified. Combining eye examination with data on age of onset and linked DNA markers is highly effective in carrier exclusion; 38% of 528 first, second, and third degree relatives had their carrier risk reduced to less than 1 in 1000. Even with such assurance many subjects will request continued bowel screening at a reduced frequency. Little interest has been shown in prenatal diagnosis. The principal value of a genetic register with domiciliary nurse visiting is the reduction in early mortality among unrecognised gene carriers.
Adenomatous Polyposis Coli↗
Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an accurate diagnosis for isolated females who present with features of ectodermal dysplasia. The advantages of diagnosing female carriers of XHED include the optimisation of neonatal and paediatric care for affected male infants, who may be at substantial risk of death in infancy.
Adult↗
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.
Abnormalities, Multiple↗
Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings.
A previously unreported association between a familial predisposition to colonic neoplasia and familial adult onset lower motor neuron (LMN) degeneration is reported. Two brothers presented at the ages of 53 and 44 years with multiple colonic adenomata and invasive colonic carcinoma respectively. Subsequently both developed a virtually identical pattern of motor neuron disease of progressive muscular atrophy type. At presentation both had LMN weakness affecting predominantly the upper limb and neck muscles. The disease progressed rapidly to involve the lower limb and bulbar musculature and both brothers died after a 15 month course. Necropsy was performed on one brother and showed pathological changes confined to the LMNs with no evidence of involvement of the pyramidal tracts or motor cortex. The combination of these diseases in two brothers may be of importance in the search for genes responsible for familial motor neuron disorders. It is suggested that a genomic search should be directed initially to the vicinity of known colon neoplasia genes, particularly 5q, 17q and 18q.
Adenocarcinoma↗
Midline facial defects with ocular colobomata.
We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal "dysplasia." Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal "dysplasia." The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.
Abnormalities, Multiple↗
Familial ventricular tachycardia: a report of four families.
Four cases of familial ventricular tachycardia are presented. In each family the proband was an adolescent girl. Twelve members in the four families were affected and all were female. The clinical and electrocardiographic features were relatively constant within each family but there were striking differences between families. These differences argue against a common electrophysiological or pathophysiological basis for the ventricular tachycardia.
Adolescent↗
The Schinzel-Giedion syndrome.
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Abnormalities, Multiple↗
A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male.
An adult male is described with a de novo deletion 15q21.2-q22.1. He shares some minor dysmorphic features with similar cases but the degree of mental retardation is markedly less severe.
Abnormalities, Multiple↗
Alagille syndrome and deletion of 20p.
We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.
Abnormalities, Multiple↗
Cranial hemihypertrophy and neurodevelopmental prognosis.
Three cases of congenital cranial hemihypertrophy are described. CT or ultrasound scans showed unilateral cerebral enlargement with dilatation of the ipsilateral ventricle. Seizures occurred in two patients and the neurodevelopmental outlook appears poor. These patients represent a poor prognosis subgroup of the congenital hemihypertrophies.
Brain↗
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.
Child, Preschool↗
A prospective study of acute cerebrovascular disease in the community: the Oxfordshire Community Stroke Project--1981-86. 2. Incidence, case fatality rates and overall outcome at one year of cerebral infarction, primary intracerebral and subarachnoid haemorrhage.
The age and sex specific incidence rates for cerebral infarction, primary intracerebral haemorrhage and subarachnoid haemorrhage in a population of approximately 105,000 are presented. Over four years 675 patients with a first-ever stroke were registered with the Oxfordshire Community Stroke Project. The pathological diagnosis was confirmed by computerised tomography (CT) scan, necropsy or lumbar puncture (cases of subarachnoid haemorrhage only) in 78% of cases and a further 17% were diagnosed according to the Guy's Hospital Stroke Diagnostic Score. The proportion of all first-ever strokes by pathological type was: cerebral infarction 81% (95% confidence interval 78-84), primary intracerebral haemorrhage 10% (8-12), subarachnoid haemorrhage 5% (3-7) and uncertain type 5% (3-7). These proportions are similar to other community-based studies. The overall 30 day case fatality rate was 19% (16-22), that for cerebral infarction being 10% (7-13), primary intracerebral haemorrhage 50% (38-62) and subarachnoid haemorrhage 46% (29-63). One year post stroke 23% (19-27) with cerebral infarction were dead and 65% (60-70) of survivors were functionally independent. The figures for primary intracerebral haemorrhage were 62% (43-81) dead and 68% (50-86) of survivors functionally independent and for subarachnoid haemorrhage were 48% (24-72) dead and 76% (56-96) of survivors functionally independent. There are important differences between these rates and those from other sources possibly due to more complete case ascertainment in our study. Nevertheless, the generally more optimistic early prognosis in our study, particularly for cases of cerebral infarction, has important implications for the planning of clinical trials and for the expected impact that any treatment might have on the general population.
Adolescent↗
The frequency, causes and timing of death within 30 days of a first stroke: the Oxfordshire Community Stroke Project.
In a prospective, community-based study of 675 consecutive patients with a first-ever stroke, of whom over 90% had computed tomography (CT) and/or necropsy examinations, 129 deaths occurred within 30 days of the onset of symptoms, a case fatality rate (CFR) of 19%. The 30 day CFR for patients with cerebral infarction was 10% (57 of 545, for primary intracerebral haemorrhage 52% (34 of 66), for subarachnoid haemorrhage 45% (15 of 33) and for those of uncertain pathological type 74% (23 of 31). The CFR for patients who had been functionally dependent pre-stroke was 33% compared with 17% for those who had been independent pre-stroke. The age-adjusted relative risk of death for patients who had been functionally dependent pre-stroke was not significantly greater (1.8, 95% confidence interval 0 to 4.3). There was a significant trend for CFR to increase with age (Chi square for trend = 4.0, p less than 0.05). This relationship was found in those patients who had been functionally independent prestroke (Chi square for trend = 7.9, p less than 0.005) but not in those who had been dependent pre-stroke (Chi square for trend = 0.5, NS). The pattern of increasing CFR with increasing age amongst those who had been independent prestroke was seen particularly in patients with cerebral infarction (Chi square for trend = 8.6, p less than 0.005). The age-adjusted relative risk of death for patients with cerebral infarction who had been functionally dependent pre-stroke was 2.2 (95% confidence interval 1.2 to 4.1). Fifty three percent of all deaths within 30 days of stroke were due to the direct neurological sequelae of the stroke. Patients with primary intracerebral or subarachnoid haemorrhages were significantly more likely to die in this way than those with cerebral infarction (relative risk 4.1; 95% confidence interval 3.4-4.9) and 56% of such deaths occurred within 72 hours of onset. In patients with cerebral infarction, 51% of deaths were due to complications of immobility (for example, pneumonia, pulmonary embolism) and these were more likely to occur after the first week. These findings have implications for clinical practice and the planning of clinical trials.
Aged↗
Xp21 DNA probe in diagnosis of muscular dystrophy and spinal muscular atrophy.
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Chromosome Deletion↗
Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis.
Families of people known to have familial adenomatous polyposis are screened for signs of the disease by yearly examination of the bowel. Multiple areas of congenital hypertrophy of the retinal pigment epithelium have been described in patients with familial adenomatous polyposis. To assess the reliability of this marker 40 patients with familial adenomatous polyposis, representing all 25 pedigrees with living affected members in the Northern region's polyposis registry, were examined for hypertrophy of the retinal pigment epithelium. All had multiple lesions, ranging in number from two to over 40. None of the 35 controls had more than two lesions. Ocular examination is valuable for detecting carriers of the gene for familial adenomatous polyposis before their symptoms develop.
Adenomatous Polyposis Coli↗