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Biomedical subjects

M J Harrod

Publications and source records attributed to M J Harrod.

36 records · Page 2Linked to original sources
PubMed1977

A cutaneous marker in the Hunter syndrome a report of four cases.

A report of four patients and review of the literature suggest that a cutaneous marker exists for the Hunter syndrome. All previously described patients with this eruption have been males with clear corneas. The distinctive lesions consist of firm ivory-white papules and nodules that may coalesce to form ridges or a reticular pattern. The papules are usually seen in symmetrical areas between the angles of the scapulas and posterior axillary lines, the pectoral regions, the nape of the neck and/or on the lateral aspects of the upper arms and thighs. These lesions are seen in both allelic forms and cannot be used to separate a benign from a rapid course.

Arm↗
PubMed1976

Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.

Bilateral polycystic kidneys and chronic renal failure were observed in a 48-year-old woman with the classic clinical features of the oral-facial-digital syndrome, Type I (OFD-I). Since this association has been previously reported in two other patients, these findings suggest that polycystic kidneys may be a hitherto unrecognized manifestation of the oral-facial-digital syndrome.

Abnormalities, Multiple↗
PubMed1976

alpha-L-iduronidase deficiency and possible Hurler-Scheie genetic compound. Clinical, pathologic, and biochemical findings.

The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler and Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of alpha-L-iduronidase. We are reporting a patient with alpha-L-iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler-Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25-year-old woman whose initial presentation was due to acute paranoia and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patient's illness is that the underlying disorder was not clinically apparent until adulthood, but presented with sever bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.

Adult↗
PubMed1976

Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome.

We describe 14 patients with congenital absence of the vagina associated with a variable abnormality of the uterus and review the literature. Associated developmental anomalies of the urinary tract and skeleton are common. As a result of the analysis of two affected families, we believe that the disorder may represent the variable manifestation of a single underlying genetic defect that can be expressed alone or in any combination of vertebral, renal, and genital abnormalities. Some affected persons may have lethal manifestations such as absence of both kidneys, and some cases may result from multifactoral causes rather than a single gene defect. Whatever the cause, the defect involves mesodermal development and the mesonephric kidney, the latter resulting in abnormalities in the paramesonephros (uterus and vagina) and in the metanephric kidney. Both nonoperative and surgical treatments are generally successful in repairing the vaginal abnormality.

Adolescent↗
PubMed1975

Ring 17 chromosome detected by amniocentesis.

A fetus with a 46,XX,r(17) karyotype identified initially by amniocentesis and confirmed by banding studies is described. No significant phenotypic abnormalities were identified despite isolation of the ring chromosome from multiple fetal tissues. This paucity of abnormal features of gross development is consistent with findings in 3 previously reported patients with ring 17 chromosomes.

Adult↗
PubMed1975

Familial pseudomembranous colitis and its relation to lincomycin therapy.

Severe pseudomembranous colitis was observed in 3 members of a single family: the father and 2 of his children. 2 of the affected family members received the antibiotic lincomycin prior to the onset of their symptoms. The findings in this family raise the possibility that antibiotic-induced pseudomembranous colitis in some patients may be the result of a pharmacogenetic interaction.

Adolescent↗
PubMed1975

Linkage investigation of a large family with Reifenstein's syndrome.

Linkage analysis of a 116-member family with 11 males affected by Reifenstein's syndrome is reported. One X-chromosomal and eight autosomal markers were used. Close linkage can be excluded for P, K, MNS and Xg-a. A possibility of close linkage to ABO is discussed.

Disorders of Sex Development↗
PubMedDate not supplied

Anatomic correlates of ultrasonographic prenatal diagnosis.

In utero sonographic diagnoses from forty-five malformed infants were correlated with their autopsy findings. Fifty-two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In utero ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.

Abnormalities, Multiple↗