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Biomedical subjects

R C Lewandowski

Publications and source records attributed to R C Lewandowski.

13 recordsLinked to original sources
PubMed1986

Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Analysis of clinical and cytogenetic findings taken from 62 published cases of partial trisomies of chromosome 13 showed that 15 had partial trisomy for the proximal long arm and 47 had trisomy for the distal long arm. Persistence of fetal haemoglobin (Hb F), increased projections of polymorphonuclear leucocytes (PMN), depressed nasal bridge, cleft lip/palate, and clinodactyly were more frequent in patients with proximal trisomy 13. In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, highly arched palate, and hexadactyly. In addition, several other features were common to both the groups, often showing inconsistency even when the same segment was in trisomy. The influence of the second aneusomy as the most likely cause for such inconsistent and overlapping phenotypes is discussed in view of the fact that 42 of 62 cases were derived from a balanced translocation carrier parent.

Aneuploidy↗
PubMed1980

A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures.

Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.

Abnormalities, Multiple↗
PubMed1978

Partial deletion 10q.

The patient described represents the first reported case of partial deletion 10q. The patient is compared to the partial trisomy 10q syndrome.

Asthma↗
PubMed1977

Trisomy 9 mosaicism.

The first live-born female with trisomy 9 mosaicism is reported. This patient, like four others in the literature, has a characteristic face with narrowed temples, enophthalmus, large nose and pouched cheeks, as well as skeletal abnormalities of the extremities, including hip dislocation, limited joint mobility and bone hypoplasia.

Abnormalities, Multiple↗
PubMed1976

Clinical manifestations of mannosidosis--a longitudinal study.

Mannosidosis is a partially defined disorder of glycoprotein metabolism; less than 20 cases have been reported in the literature. In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of this unusual storage disease. The data on our patients and those in the literature indicate that people with mannosidosis appear normal at birth and that their typical phenotype develops by two years of age. This is characterized by a distinctive coarse facies and dysostosis multiplex. Although recurrent infections, hearing loss and mental retardation occur, the course in this storage disorder generally is stable and is compatible with adult life. The diagnosis is confirmed by the presence of a deficiency in alpha-D-mannosidase activity in leukocytes or fibroblasts, by the presence of vacuolated lymphocytes in peripheral blood and foam cells in bone marrow, and an increased excretion of mannose-rich oligosaccharides in urine.

Adolescent↗