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Biomedical subjects

F Majewski

Publications and source records attributed to F Majewski.

At least 55 records · Page 3Linked to original sources
PubMed1988

Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature.

We describe one family with 5 affected persons in 4 generations, another family with 2 affected brothers and 3 sporadic cases of the rare syndrome of congenital scalp defects with distal limb deficiency. The manifestations of this syndrome are highly variable. Review of the literature showed 11 families and 19 sporadic cases. In most families the disorder clearly follows an autosomal dominant pattern of inheritance, but in some families with reduced penetrance. Important differential diagnoses are the syndrome of scalp defect and postaxial polydactyly, the syndrome of scalp defect and split-hand defect, amniotic band sequence, and epidermolysis bullosa dystrophica type Bart.

Female↗
PubMed1988

Spontaneous growth in Turner's syndrome.

Growth in Turner's syndrome can be divided into four phases: intrauterine growth is slightly retarded, normal growth occurs up to a bone age of about 3 years, with a tendency to compensate for the loss in growth during intrauterine life, stunting of growth is severe during childhood, after a bone age of about 10 years - the time when puberty normally starts - the growth phase is prolonged, but total height gain is not essentially reduced. Based on a study of 150 patients with Turner's syndrome whose spontaneous growth was observed, standards of height and height velocity (means and SDs) were calculated to allow mathematical analysis of the spontaneous growth and growth during treatment in these patients. The auxological characteristics in Turner's syndrome do not support the assumption that GH deficiency plays a primary role in the pathogenesis of the growth disorder.

Adolescent↗
PubMed1988

[Triploidy in newborn infants].

Human triploidy, a common condition occurring in about 1 to 2% of all clinically recognizable pregnancies, is a rare finding in live-born children. Not more than 44 live-born triploid infants have been reported in the available literature. Triploid infants surviving for more than a few days have been suspected to be hidden mosaicisms and mostly have turned out to be diploid-triploid mosaics. We observed two live-born female infants with a complete triploidy and describe the typical clinical picture.

Abnormalities, Multiple↗
PubMed1988

EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome.

We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.

Adult↗
PubMed1987

Malformation patterns in children with congenital heart disease.

We prospectively examined 1016 infants and children with congenital heart disease (CHD) to detect additional malformation patterns. They were divided into two major groups. In the first group (n = 881), the CHD either occurred alone or was accompanied by a major extracardiac malformation (n = 68, 7.7%). In the second group (n = 135, 13.3%), the CHD was part of a malformation syndrome, embryopathy, association, or complex. In one fourth of the 56 chromosomal syndromes, the underlying cytogenetic anomaly differed from trisomy 21. Fourteen of the 30 children with non-chromosomal malformation syndromes had Noonan's syndrome. Thirteen of the 27 embryopathies were due to rubella infection, but alcohol embryopathy occurred nearly as often (n = 10). In those children with malformation associations (n = 16) seven showed cardiofacial association. Three of the five children with malformation complexes had Ivemark disease. In this study, underlying disorders were found in one of eight children with CHD, a considerably higher percentage than that reported in earlier studies.

Abnormalities, Multiple↗
PubMed1987

[Molecular genetic diagnosis in X chromosome-linked retinitis pigmentosa].

Retinitis pigmentosa (RP) is the most common hereditary dystrophic disease of the retina. About 10% of the affected families show the X-linked trait. The close link observed between the gene locus (RP2) and a polymorphic DNA marker (DXS7) on the proximal short arm of the X-chromosome permits an indirect genotype diagnosis and can be helpful in carrier detection and genetic counseling. A case is presented in which the carrier risk of a female consultant dropped from 50% a priori to less than 2% by the use of clinical findings and DNA analysis.

Adult↗
PubMed1986

The Dubowitz syndrome.

The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. Further findings include hyperactivity, eczema, cryptorchidism in the affected males, and brachy-clinodactyly of the fifth fingers. Thirty-three cases with this syndrome have been reported in the literature. Five additional patients are presented. All five are sporadic cases. The diagnostic symptoms and the differential diagnosis are discussed.

Abnormalities, Multiple↗
PubMed1986

[Ovarian insufficiency in blepharophimosis, ptosis, epicanthus inversus].

Combined blepharophimosis, ptosis, and epicanthus inversus (BPEI) represent a rare syndrome with autosomal dominant transmission. In affected females it can be associated with infertility. In this case report we could follow the development of primary ovarian failure in a 28-year old woman with BPEI by repeated hormone determinations. Endocrinological and morphological results give good evidence of increasing gonadotropin resistance on the ovarian level.

Adult↗
PubMed1985

Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.

Six families with a total of 34 affected persons with the syndrome of tibial aplasia and ectrodactyly are reported. The spectrum of malformations is compared to that of 99 familial cases from the literature. The full-blown syndrome consists of bilateral aplasia of tibiae and split-hand/split-foot deformity. Additional malformations may be distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, hypoplastic big toes, postaxial and intermediate polydactyly in connection with split-hand deformity, and cup-shaped ears. The mildest visible manifestation may be hypoplastic big toes, the severest is tetramonodactyly or transverse hemimelia. This disorder is autosomal dominantly inherited. The penetrance is markedly reduced.

Abnormalities, Multiple↗
PubMed1985

De Barsy syndrome--an autosomal recessive, progeroid syndrome.

We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroid aspect with cutis laxa, atrophy of skin with hyperpigmentation, isolated depigmentations, reduction of subcutaneous fatty tissue, translucent vein pattern, short stature, frontal bossing in the young child, large prominent ears with dysplastic helices and corneal clouding or cataracts. The syndrome probably has autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1985

Report of a deletion 11 (qter----q23.3) and short review of the literature.

A male child is described with short stature, mental retardation and unusual facial appearance. Cytogenetic analysis revealed a partial deletion of the long arm of chromosome 11: 46,XY,del (11)(qter----q23.3:). A short review of previously reported cases of del 11q is presented. A comparison of the main clinical characteristics and the extent of the 11q deletion is given.

Body Height↗
PubMed1985

EEC syndrome without ectrodactyly? Report of 8 cases.

Eight cases are presented from two families with a variable manifestation of the EEC syndrome. In the first family only one of three affected persons suffers from limb defects. In the second family all five affected have a different pattern of symptoms and only two of them show limb defects. The described families as well as at least one literature report confirm that ectrodactyly is not an obligate symptom of the EEC syndrome.

Abnormalities, Multiple↗
PubMed1984

Congenital anomalies in patients with choanal atresia: CHARGE-association.

Six patients with both choanal atresia (ChA) and additional malformations are described and another 110 cases with this combination reviewed from the literature. Our study of these cases supports the existence of the CHARGE-association (Coloboma, Heart Disease, Atresia of choanae, Retarded mental development and growth, Genital hypoplasia, Ear anomalies and deafness). Our findings suggest the inclusion of orofacial clefts and oesophageal atresia among the main symptoms of this association. A certain degree of facial dysmorphism (low set, dysplastic ears, retrogenia, antimongoloid slant of palpebral fissures and anteverted nares) was observed in each of our cases. Infants with the bilateral type of ChA plus cardiac defects and those with ChA plus renal malformations have a high mortality rate. The aetiology of the association is not clear. The recurrence risk may be low.

Abnormalities, Multiple↗