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Biomedical subjects

M A Patton

Publications and source records attributed to M A Patton.

103 records · Page 6Linked to original sources
PubMed1986

A Noonan-like short stature syndrome with sparse hair.

Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.

Child↗
PubMed1986

Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.

A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syndrome. The histology of the muscle biopsy shows a wide range fibre diameter in type 1 and type 2 fibres with a relative deficiency of type 2b fibres. It is suggested that this condition may be primarily a myopathy.

Abnormalities, Multiple↗
PubMed1985

The Aase-Smith syndrome.

A distinct syndrome with hand abnormalities, joint contractures, cleft palate and a Dandy-Walker malformation was reported by Aase & Smith (1968). This paper reports a second example of this syndrome in a mother and daughter.

Abnormalities, Multiple↗
PubMed1985

Reduced penetrance in tuberous sclerosis.

Two first cousins are reported with clinical evidence of tuberous sclerosis. The intervening brother and sister show no evidence of the disease on clinical and Wood's lamp examination, nor on CT scan.

Adolescent↗
PubMed1985

The clinical features of the Cohen syndrome: further case reports.

We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome.

Abnormalities, Multiple↗
PubMed1985

Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype.

Three new cases of oculodentodigital (ODD) syndrome are reported. The clinical features are discussed and the development of the characteristic facial appearance is illustrated. Conductive deafness is reported in one of our cases and has been reported in six previous cases. It is suggested that it is a feature of the syndrome which is amenable to treatment.

Abnormalities, Multiple↗
PubMed1982

Mannosidosis in two brothers: prolonged survival in the severe phenotype.

Two cases of mannosidosis are reported in brothers, one aged 41 years at death, the other aged 40 years and still alive. These patients are the oldest reported in the literature. Prolonged survival has previously been associated with the milder Type II phenotype. In addition to the characteristic clinical and radiological features of mannosidosis, both had severe joint destruction, which may be related to abnormal lysosomal enzymes in cartilage. The activity of acidic alpha-mannosidase was markedly reduced in plasma, leucocytes and fibroblasts, and the altered kinetic and physical properties are described.

Adult↗
PubMedDate not supplied

Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome).

Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorism-dysphagia syndrome (or Opitz-G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz-G syndrome.

Adult↗
PubMedDate not supplied

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

We recently reported a novel complex allele in the cystic fibrosis transmembrane regulator (CFTR) gene, combining a sequence change in the minimal CFTR promoter (-102T>A) and a missense mutation in exon 11 [S549R(T>G)]. Here we compare the main clinical features of six patients with cystic fibrosis (CF) carrying the complex allele [-102T>A+S549R(T>G)] with those of 16 CF patients homozygous for mutation S549R(T>G) alone. Age at diagnosis was higher, and current age was significantly higher (P=0.0032) in the group with the complex allele, compared with the S549R/S549R group. Although the proportion of patients with lung colonization was similar in both groups, the age at onset was significantly higher in the group with the complex allele (P=0.0022). Patients with the complex allele also had significantly lower sweat test chloride values (P=0.0028) and better overall clinical scores (P=0.004). None of the 22 patients reported in this study had meconium ileus. All 16 patients homozygous for S549R(T>G), however, were pancreatic insufficient, as compared with 50% of patients carrying the complex allele (P=0.013). Moreover, the unique patient homozygous for [-102T>A+S549R(T>G)] presented with a mild disease at 34 years of age. These observations strongly suggest that the sequence change (-102T>A) in the CFTR minimal promoter could attenuate the severe clinical phenotype associated with mutation S549R(T>G).

Alleles↗
PubMedDate not supplied

A study of consanguinity in the Sultanate of Oman.

Omani society has a long tradition of consanguinity, which goes back to pre-Islamic times. The aim of the present study was to determine the prevalence of consanguineous marriage and the mean coefficient of inbreeding in Oman. Consanguinity rates among 60,635 couples (20.8% of the national population of childbearing age) were determined on the basis of a questionnaire in major delivery units. In this large survey, which included all sections of the community, 24.1% of marriages were reported between first cousins and 11.8% of marriages were between second cousins. In addition, a further 20.4% of marriages were contracted within specific tribal groupings. Because of the strictly endogamous nature of the tribal groups in Oman, all marriages would be expected to be consanguineous to some degree, albeit at a level beyond that of second cousins (F < or = 0.0156). To obtain a more detailed picture of the patterns of consanguinity, and to assess the validity of the questionnaire-based study, 500 pedigrees were investigated in detail. The mean coefficient of inbreeding (alpha) in these pedigrees was 0.0204, compared with 0.0198 in the larger survey, suggesting that the data were broadly comparable and confirming the high degree of consanguinity in the population of Oman.

Consanguinity↗