Biomedical subjects
Publications and source records attributed to F Majewski.
A syndrome with growth retardation, repeated hair loss, and ring-shaped degeneration of the retinal pigmentary epithelium is described. Similarities to a known syndrome could not be found.
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.
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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.
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.
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.
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.
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.
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.
Maternal chronic ethanol abuse during pregnancy causes malformations of the offspring. Three children (aged 6 months, 9 months, 4 1/2 years) and 3 fetuses (17th, 18th, and 20th gestational week) showed a wide spectrum of disorders ranging from severe dysraphic state, arhinencephaly, porencephaly, agenesis of corpus callosum, a range from hydranencephaly to microdysplasias (p.e. reduced gyration of dentate nucleus and inferior olives), and a range from gastrochisis or congenital heart defects to craniofacial dysmorphogenesis and palmar crease anomalies. The patterns of the cerebral malformations were not as uniform as the clinical phenotype of the alcohol embryopathy. The observations did not support the assumption that there exists a specific period for alcohol teratogenicity.
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Both alcohol embryopathy and diabetic fetopathy were observed in the same female child. The mother was known to be alcoholic as well as diabetic. At birth the signs of diabetic fetopathy predominated: the child showed edematous subcutaneous fat, birth weight was 3650 g. The heart was enlarged. The patient's blood sugar levels ranged from 0 to 1.4 mMol/1 (0-25 mg/dl). Features of alcohol embryopathy were typical craniofacial dysmorphy, hypotonia of muscles and hyperexcitability. Later on the features of alcohol embryopathy predominated: the child became dystrophic with pronounced microcephaly, and the craniofacial dysmorphy clearly resembled other patients with alcohol embryopathy. This observation is in favour of the hypothesis, that alcohol induces cell hypoplasia in the embryo resulting in postnatal growth retardation. Maternal and consequently embryonic and fetal hyperglycemia induced cell hypertrophy in the embryo and fetus, which compensated the effect of alcohol on birth weight in our patient.
The lymphocyte chromosomes from 23 children with the 'fetal alcohol syndrome' or 'alcohol embryopathy' (AE) were analyzed with respect to exchange type aberrations. These aberrations were not more frequent in AE than in controls. The possibility that AE results from unspecific suppression of RNA and consequently of protein synthesis in the developing embryo is discussed.
Palmar creases and dermal ridge patterns of 34 patients with alcohol embryopathy are compared with 470 healthy individuals. In alcohol embryopathy several typical deviations were noted. Palmar Creases. The interdigital part of the distal palmar crease is generally sharply bent, the proximal transverse crease is hypoplastic or missing, the thenar crease is commonly well marked. Simian creases and bridged palmar creases are more common in patients with alcohol embryopathy than in healthy individuals. Ridge Patterns of the Palm. The main line D coming from triradius d in patients with alcohol embryopathy mostly shows a low type of ending in the fourth interdigital area; in this area loops are twice as common as in healthy individuals. Patterns of the Fingertips. No deviations were noted in the distribution of whorls and loops, but virtually no arches were observed in patients with alcohol embryopathy. These anomalies suggest embryonic damage in the twelfth week of gestation.
Basing on previous experience, with alcohol embryopathy the authors recommended interruption of pregnancy in three chronic alcoholics, two of whom were in the chronic phase and one in the critical phase of alcohol addiction. All the three fetuses were hypertrophic, two severely malformed. In the authors' opinion there is eugenically speaking an absolute indication of interruption of pregnancy in alcoholics in the chronic phase of addiction. In women who are in the critical phase of addiction, each case requires close scrutiny, whereas interruption is not indicated from the eugenic aspect in women in the prodromal stage.
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