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Biomedical subjects

R Walbaum

Publications and source records attributed to R Walbaum.

At least 19 recordsLinked to original sources
PubMed1979

[Genetics of hereditary cutaneous diseases associated with digestive tract involvement].

Most of cutaneous hereditary diseases are associated with digestive symptoms but only four groups have a predominated digestive symptomatology: I. Hereditary disease with intestinal polyposis. II. Vascular dysplasias with intestinal haemorrhage. III. Connective tissue discover in hereditary diseases. IV. Acrodermatitis enteropathica with diarrhoea. Though very different with one another, Peutz-Jeghers syndrome and Gardner's syndrome are transmitted according to autosomal dominant trait. Only bi- or unigenic origin is still controversed. Rendu-Osler's disease and blue rubber bled naevus also transmit according to autosomal dominant trait. Pseudoxanthoma elasticum is very likely transmitted according to autosomal recessivity. But the main forms of Ehlers-Danlos disease are autosomal dominant conditions, the other form being either autosomal recessive or sex-linked (type V). Acrodermatitis enteropathica is transmitted according to autosomal recessivity but the gene has a very variable penetrance so that the mutations are very common.

Acrodermatitis↗
PubMed1979

[V.A.T.E.R. association and its limits].

Comparative investigation of 92 cases of V.A.T.E.R. syndrome (4 personal cases) and 62 cases of caudal regression (Duhamel syndrome) (2 personal cases) are performed. There is much analogy between these two entities. Initial impairment would be an early dysfunction of mesoderm setting up located on esophagus in V.A.T.E.R. syndrome and on kidneys in Duhamel syndrome. Etiopathogenic factors remain unknown. Genetic counseling is good. Detection of only one mesodermal malformation leads to inquire other unnoticed anomalies (kidneys, heart, spine, alimentary duct).

Abnormalities, Multiple↗
PubMed1978

[A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)].

A partial monosomy 13 by interstitial deletion was found in the complement of a girl with mild mental retardation and bilateral retinoblastoma. Break points were at 13q12 and 13q14. After comparison with other known observations of retinoblastoma with deletion of chromosome 13, it is suggested that the deletion common to these patients may be band 13q14. The most likely pathogenic hypothesis seems to be the haplo-insufficiency.

Child, Preschool↗
PubMed1978

[Langer's type mesomelic dwarfism. Apropos of a case].

One case of Lnger's type mesomelic dwarfism is reported in a 7-day old newborn. Height retardation was severe and concerned essentially the middle segment of limbs. Cubituses and fibulae were hypoplastic. The inferior mandible was intact. No biological change was found. The genetic transmission could be either recessive autosomal (parents double-first cousins), or dominant autosomal with pleiotropic expression (the mother, and an aunt on the father's side presenting with dyschondrosteosis).

Adolescent↗
PubMed1977

[Study of fingerprints in 12 cases of hereditary brachydactyly type C and E (author's transl)].

The authors studied 7 patients with type C brachydactyly and 5 patients with type E brachydactyly. 1. In the C type cases the findings were as follows: a) frequency of anomalies of the digital folds (a fold of the digital flexion); b) frequency of single transverse palmar fold; c) the almost persistent presence of axial t triradius in the intermediate or distal position. 2. In the type E cases there was a predominance, at the digital pulp level, of cubital loops and whorls.

Dermatoglyphics↗
PubMed1976

Brachydactylia with symphalangism, probably autosomal recessive.

Association, in one patient, of the following malformations: brachydactylia of all segments but terminal phalanges; proximal symphalangism of many fingers and toes; abnormalities of carpal and tarsal bones; partial duplication of both big toes; mild hypertelorism. Genetic transmission seems to be recessive autosomal.

Abnormalities, Multiple↗