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Biomedical subjects

M A Patton

Publications and source records attributed to M A Patton.

At least 73 records · Page 4Linked to original sources
PubMed1993

Photoanthropometric study of facial growth in Noonan syndrome.

We present a photoanthropometric analysis of 104 individuals with Noonan syndrome. The study contained 53 males and 51 females with an age range of one to 60 years (mean 13.8 years). The results provide an objective evaluation of facial abnormality in Noonan syndrome. Individuals with Noonan syndrome are demonstrated to have an increased mid face height, hypertelorism, retrognathia, a lower nasal bridge and nasal root, a wider mouth, a more prominent upper lip, and apparently lower set ears than normal control individuals. Within the patient group an apparent alteration of facial structure was noted with increasing age, suggesting that remodelling of the characteristic face in Noonan syndrome may occur into adult life.

Adolescent↗
PubMed1993

Genetic counselling in Noonan syndrome.

A clinical and echocardiographic study is presented of 117 families with Noonan syndrome. The 117 families contained 144 individuals with typical Noonan syndrome. The age range of these individuals was from one week to 45 years (mean 12.0 years). One parent was definitely affected with Noonan syndrome in only 14% of the 117 families (mother 11%, father 3%). In a further 31% of families, one parent had possible signs of Noonan syndrome, based on facial appearance only. Within the apparently sporadic group of probands there was no evidence of increased parental age. Echocardiography demonstrated no cases of subclinical cardiac disease in all first degree relatives examined, and clinical examination alone missed no case of cardiac disease. Segregation analysis of affected pedigrees confirmed autosomal dominant inheritance. If both parents had only possible or no signs of Noonan syndrome, subsequent to the birth of the first child with Noonan syndrome in a family, an empiric recurrence risk of 5% was obtained.

Adult↗
PubMed1993

Abdominal ultrasound in Noonan syndrome: a study of 44 patients.

Noonan syndrome affects approximately 1 in 1500 live births. Affected individuals may have characteristic phenotypic features some of which are shared with Turner syndrome, although in Noonan syndrome the karyotype is normal, unlike the 45X karyotype of Turner syndrome. Renal anomalies have been described in both syndromes and in Turner syndrome they are both common and frequently severe. The frequency and spectrum of renal anomalies in Noonan syndrome have not been well documented. Upper abdominal ultrasound was performed to establish the frequency of renal anomalies in Noonan syndrome. Forty-four individuals with Noonan syndrome, aged between 9 months and 38 years, were studied. Sixteen scans (36%) were normal and 28 (64%) were abnormal. Five patients (11%) had renal anomalies. Twenty-three patients (53%) had splenomegaly, 6 of these with associated hepatomegaly. One patient had a choledochal cyst and a midgut malrotation. The frequency of renal anomalies in Noonan syndrome is 11%, which is lower than that seen in Turner syndrome. However, splenomegaly with or without hepatomegaly occurs commonly. Choledochal cyst and solitary kidney, previously unreported in Noonan syndrome, are documented.

Abdomen↗
PubMed1993

Congenital nystagmus cosegregating with a balanced 7;15 translocation.

We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100).

Chromosomes, Human, Pair 15↗
PubMed1992

Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome.

Noonan's syndrome is characterised by a dysmorphic facies, congenital heart disease, and short stature, and is inherited as an autosomal dominant trait. Because abnormal bleeding has also been reported, we investigated a group of patients for coagulation-factor deficits. Of the 72 individuals studied (37 male, 35 female, mean age 11.4 years), 47 (65%) had a history of abnormal bruising or bleeding. 29 patients (40%) had a prolonged activated partial thromboplastin time. Specific abnormalities in the intrinsic pathway of coagulation (partial factor XI:C, XII:C, and VIII:C deficiencies) were found in 36 patients (50%). Multiple abnormalities among these 36 patients included combined factor XI:C and XII:C deficiencies (4 patients) and factor XI:C and VIII:C deficiencies (4), and 1 patient had combined factor VIII:C, XI:C, and XII:C deficiency. There was poor correlation between a history of abnormal bleeding and coagulation-factor deficit. In five families, similar coagulation-factor deficiencies were present in first-degree relatives with the syndrome. The pattern of inherited bleeding abnormalities seen in Noonan's syndrome suggests autosomal regulation of the intrinsic coagulation pathway.

Adolescent↗
PubMed1992

Myocardial disarray in Noonan syndrome.

OBJECTIVE: To characterise the histopathology of the left ventricular hypertrophy commonly associated with Noonan syndrome by assessing the extent of myocyte disarray and therefore to define one aspect of the relation between this disease and idiopathic hypertrophic cardiomyopathy. DESIGN: Blinded histological analysis. SETTING: Hospital medical school. PATIENTS: Six hearts of children with the Noonan phenotype and isolated ventricular hypertrophy were compared with age and sex matched controls. METHODS: Histological analysis was performed with an image analyser under light microscopy. Representative sections from the entire left ventricular free wall were examined. Results were expressed as the percentage of fields showing disarray related to the number of fields evaluated: 100 fields were examined for each patient. RESULTS: In the patients with Noonan syndrome myocardial disarray was present in the ventricular septum in 24 (5.7)% (mean (SD)) of fields and in the free wall in 22.2 (6.8)%. In the controls disarray was present in the septum in 3.8 (2.3)% of fields and in the free wall in 2.4 (2.8)%. In both regions the extent of disarray was significantly greater in patients with Noonan syndrome (p < 0.0005; 95% confidence interval 14 to 26.3 for the septum: p < 0.005, 95% confidence interval 11.4 to 28.2 for the free wall). CONCLUSIONS: The ventricular hypertrophy associated with Noonan syndrome is histologically similar to hypertrophic cardiomyopathy but whether the two diseases are the expression of the same genetic defect remains to be determined.

Child↗
PubMed1992

Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.

A family is presented with autosomal dominant progressive palmoplantar hyperkeratosis, which is invariably associated with a slowly progressive, bilateral, high frequency, sensorineural hearing loss. The family show no other ectodermal abnormality. The differential diagnosis and possible mechanisms are discussed. This family appears to represent a unique variant in the hyperkeratosis-deafness association.

Adult↗
PubMed1992

Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.

Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11). A significantly negative lod score was obtained with the intragenic probe NF1-C2, suggesting that the genes for Noonan syndrome and neurofibromatosis type 1 are not contiguous.

Alleles↗
PubMed1992

Brachydactyly type C associated with shortening of the hallux.

A four generation autosomal dominant pedigree of brachydactyly type C is presented with its radiological features. The hands and feet were similarly affected. All the subjects showing these changes had shortening of the big toes and, in addition, had cupped ears.

Abnormalities, Multiple↗
PubMed1992

Balanced translocation (14;20) in a mentally handicapped child with cystinuria.

A mentally handicapped 3 year old child with cystinuria is presented. Routine chromosomal analysis showed an apparently balanced de novo translocation in the child with breakpoints 14q22 and 20p13. Family studies suggested that the child is a type I/type II compound heterozygote for cystinuria. This translocation may indicate a possible locus for the gene for cystinuria.

Child, Preschool↗