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Biomedical subjects

K P Grosse

Publications and source records attributed to K P Grosse.

At least 19 recordsLinked to original sources
PubMed1982

[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].

Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve. The parents of the children presented with minor symptoms such as dysplasia iridis, arcus lipoides and hyperlipemic vascular signs in the retina. Differential diagnostic considerations suggest a hereditary disease, the pathogenesis of which is not completely clear.

Abnormalities, Multiple↗
PubMed1982

[Clinical aspects, diagnosis and therapy of acrodermatitis enteropathica].

Acrodermatitis enteropathica is a very rare disease, usually occurring during child age, but also in grown-ups. Symptoms are skin lesions localized periorally and acrally, alopecia, diarrhea and psychic alterations. The disease is caused by zinc deficiency due to malabsorption. The diagnosis can be established by decreased plasma levels of zinc; typical changes of the Paneth cells may be demonstrated by electron microscopy. Substitution by supplying zinc will lead to complete clinical healing.

Acrodermatitis↗
PubMed1979

Distal 2q duplication: report of two familial cases and an attempt to define a syndrome.

Two cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 46,XY, t(2;8(q32;p23)]. When the two patients were compared to the few cases reported in the literature, it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.

Abnormalities, Multiple↗
PubMed1979

[Arteriohepatic dysplasia (author's transl)].

Case reports of 55 patients with arteriohepatic dysplasia are evaluated (51 cases reported in the literature, 4 own cases). The main features of this syndrome are dysmorphous facial structure, peripheral pulmonic stenoses, intrahepatic cholestasis, and growth retardation secondary to the liver impairment. In addition, the patients may exhibit vertebral anomalies, retarded mental and sexual development, ocular and renal anomalies. The syndrome probably is inherited as an autosomal dominant trait with variable penetrance and expressivity. Therapeutically cholestyramine in high dosage, phenobarbital and fat-soluble vitamins may be tried.

Abnormalities, Multiple↗
PubMed1978

[Partial trisomy 2p due to a familial translocation 2/6. Cytogenetic and clinical case with special reference to ophthalmologic changes].

A translocation 2/6 inherited for 3 generations is described. The propositus, carrier of a partial trisomy 2p, showed multiple morphological anomalies of which microphtalmus and persistance of primary vitreous body were of particular interest. Based on a comparison of this with seven other patients in the literature, the most characteristic clinical symptoms of partial trisomy 2p are concluded to be the following: abundant lanugo at birth, glabella prominence, anteverted nares, dermatoglyphic anomalies, and malformations of the eyes.

Abnormalities, Multiple↗
PubMed1977

Duplication deficiency of an X-chromosome with and without 45,X mosaicism in three girls. Cytogenetic, clinical, and hormonal findings.

In three girls, aged 14, 15 and 16 years, the chromosome analysis revealed a morphologically abnormal, enlarged X-chromosome resembling in size and centromere position the chromosome no. 2. The translocation points were different in all three cases. The Barr-bodies were enlarged. In two girls a 45,X mosaicism (25% and 10%) was found in lymphocyte cultures. The length at birth was 43, 47 and 48 cm, and none of the girls was born before term. The main clinical abnormalities in all three cases were a marked growth retardation, slight morphological dysplasias, lack of sexual development and social immaturity. GH and cortisol secretion during an insulin tolerance test were normal. LH and FSH were elevated and showed an exaggerated reaction on LH-RH. Oestrogens were low normal and androgens within the normal range. At laparatomy the gonads were found to be streak gonads. For two girls cell cultures of gonadal tissue were set up, the chromosome findings of which corresponded to those of the lymphocyte cultures. The abnormality of the gonosomes reported here seems to represent a special form of gonadal dysgenesis. Although the translocation points were different in the three patients and one had no mosaic, while the other two showed 45,X/46,XX mosaicism, the clinical and hormonal findings were nearly the same for all three girls.

Adolescent↗
PubMed1977

Partial deletion of 1q, following a pericentric inversion, in a boy with multiple minor morphologic anomalies and mental retardation.

In a 3 3/4 year old boy with mental and physical retardation, a chromosome analysis from lymphocyte cultures revealed a partial deletion of chromosome 1q following a pericentric inversion. The chromosomes of the parents were normal. The clinical picture of the patient included the following characteristics: prominent occiput, small chin, deep-seated and dysplastic ears, abnormal vortices of the hair, divided tip of the tongue, high palate, small finger and toe nails, inguinal hernia both sides, undescended but normal sized testes, hypotonic musculature and overextensible joints, retardation of ossification in the left hand by 6-12 months, slight osteoporosis, EQ approximately 0.5.

Abnormalities, Multiple↗
PubMed1977

Double autosomal trisomy: case report (48, XX, +18, +21) and review of the literature.

A twelve-months-old female is reported with double trisomy of the autosomes 18 and 21 (48,XX,+18,+21), exhibiting the clinical features of mongolism. The findings of this patient and the data of fourteen previously reported cases with double autosomal trisomy, twelve of them mosaics, may be summarised as follows: The mean birth weight was lower than in the single trisomies D, E, and G. The distribution of the maternal ages at birth of the patients was striking: six mothers were younger than 21 years, seven mothers were older than 34 years. In those patients with prevalence of one of the two extra chromosomes in their karyotypes, the corresponding trisomy syndrome also predominated clinically. In those cases with an equal proportion of both additional chromosomes there were as many patients with clinical predominance of the one as of the other trisomy syndrome. Survival beyond the second half of the first year of life was seen only in those patients who showed the clinical picture of mongolism.

Birth Weight↗
PubMed1975

Partial trisomy 10p.

It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.

Abnormalities, Multiple↗