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F A Beemer

Publications and source records attributed to F A Beemer.

At least 19 recordsLinked to original sources
PubMed1996

[3 children with velocardiofacial (Shprintzen) syndrome].

In three children, girls of 3, 8, and 12 years old, who attended or had attended public health care facilities, velocardiofacial syndrome was diagnosed. The most important symptoms are cleft palate, cardiac anomalies, characteristic facies (almond-shaped eyes, wide nose, small ears) and learning problems. The syndrome has an autosomal dominant inheritance pattern with a very variable expression. Using fluorescence in situ hybridisation, microdeletions of the long arm of chromosome 22 have been identified in 70% of the patients (22qII). Velocardiofacial syndrome should be considered in any child with cleft palate, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, facial dysmorphism and/or conotruncal cardiac anomalies.

Abnormalities, Multiple↗
PubMed1996

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B). To learn more about the molecular basis of DTDST chondrodysplasias and about genotype-phenotype correlations, we studied fibroblast cultures of three new patients: one with AO-2, one with DTD, and one with an intermediate phenotype (AO2/DTD). Reduced incorporation of inorganic sulfate into macromolecules was found in all three. Each of the three patients was found to be heterozygous for a c862t transition predicting a R279W substitution in the third extracellular loop of DTDST. In two patients (DTD and AO2/DTD), no other structural mutation was found, but polymerase chain reaction amplification and single-strand conformation polymorphism analysis of fibroblast cDNA showed reduced mRNA levels of the wild-type DTDST allele: these two patients may be compound heterozygotes for the "Finnish" mutation (as yet uncharacterized at the DNA level), which causes reduced expression of DTDST. The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine 418 (delta c418), predicting a frameshift with premature termination. Also the delta c418 allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels. The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions. This mutation has not been found so far in 8 analyzed ACG1B patients, suggesting that it allows some residual activity of the sulfate transporter.

Anion Transport Proteins↗
PubMed1996

Psychosocial consequences of DNA analysis for MEN type 2.

Multiple endocrine neoplasia type 2 (MEN-2) is characterized by medullary thyroid carcinoma in combination with pheochromocytomas and, sometimes, parathyroid adenomas. Since 1993, the psychosocial implications of DNA analysis for MEN-2 have been studied in the Netherlands. This article summarizes the first results of that study. Individuals who applied for DNA analysis cited the need to reduce uncertainty as the major reason for wanting the test. An unfavorable test outcome resulted in anxiety and depression but also relief. Immediate preventive treatment was preferred to continued periodic screening. Carriers were preoccupied with disease-related complaints, and identified with other carriers and MEN-2 patients. A favorable test led, in most applicants and partners, to both relief and worry. Some noncarriers felt guilty and isolated from their families. One year after counseling, participants reported fewer psychosomatic complaints.

Adenoma↗
PubMed1995

[Incidence and prevalence of hemoglobinopathies in children in The Netherlands].

OBJECTIVE: To evaluate the prevalence and incidence of thalassaemia major and sickle-cell disease in children. DESIGN: Descriptive nationwide epidemiological study. SETTING: Clinical Genetic Centre Utrecht. METHOD: Prevalence data were collected by a written survey among all 333 Dutch paediatricians (1992; response rate 99.1%). Incidence data are collected monthly by the Dutch Paediatric Surveillance Unit (1992/'93; response rate: 86%). RESULTS: In September 1992, 128 children were being treated by a paediatrician for sickle-cell disease. Two children had parents born in the Netherlands, but all children were of other ethnic origins, mainly from Surinam, the Dutch Antilles, Turkey and Africa; 50 children were born in the Netherlands. 31 children were under treatment for thalassaemia major, none of them of original Dutch descent; the most frequent ethnic backgrounds were Turkey and Morocco; 20 children were born in the Netherlands. From October 1992 till December 1993 (15 months) 18 children were newly diagnosed with sickle-cell disease, of whom 7 were born in the Netherlands, and 8 children were newly diagnosed with thalassaemia major, of whom 2 were born in the Netherlands. CONCLUSION: Sickle-cell disease and thalassaemia major are (still) rare diseases in the Netherlands. With the present migration and the increase of consanguineous marriage, they are expected to become a more important health issue.

Adolescent↗
PubMed1995

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance.

Cholestasis, Intrahepatic↗
PubMed1995

Familial cutaneous cylindromas: investigations in five generations of a family.

BACKGROUND: Multiple cutaneous cylindromas are probably inherited in an autosomal dominant way. OBJECTIVE: Our purpose was to describe a large family with cutaneous cylindromas, trichoepitheliomas, and milia occurring in five generations and to elucidate further the mode of inheritance. METHODS: We examined 39 family members and obtained information on 31 other members from reports of relatives. RESULTS: The pedigree included 237 members, 118 male and 119 female, with 30 affected patients (11 male, 19 female). Between 33% and 100% of the children of affected family members had one or more of these skin lesions. Female-to-female, female-to-male, male-to-female, and male-to-male inheritance occurred. CONCLUSION: Multiple cutaneous cylindromas are inherited in an autosomal dominant way with variable clinical expression. Penetrance reaches 100% in adult life. This condition is associated with trichoepitheliomas and milia.

Adenoma↗
PubMed1995

Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.

Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that two few cases have been reported to satisfactorily classify this group of disorders.

Bone Diseases, Metabolic↗
PubMed1995

Desbuquois syndrome: three further cases and review of the literature.

We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age.

Abnormalities, Multiple↗
PubMed1994

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.

We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased fertility (D), and short stature (S). The clinical findings fit into the PIBI(D)S syndrome and trichothiodystrophy. A remarkable and probably unique observation for this disorder was the intermittent character of the scalp hair loss during infectious periods in this patient. Easy suntanning suggested photosensitivity and prompted DNA repair studies which demonstrated reduced UV-induced DNA repair synthesis. Subsequent studies have assigned this patient to xeroderma pigmentosum group D and suggested a specific deficiency of 6-4 photoproduct repair. An unaffected child was diagnosed in the next pregnancy of the mother.

Alopecia↗
PubMed1994

Additional case of opsismodysplasia supporting autosomal recessive inheritance.

The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission.

Bone Diseases, Developmental↗
PubMed1994

Reductions in size and left-right asymmetry of teeth in human oligodontia.

Tooth size and left-right asymmetry of tooth dimensions in oligodontia were compared with those of a control group. Both early and late developing teeth were severely affected, and almost all teeth had significant reductions, compared to the control group, in mesiodistal and labiolingual dimensions. Left-right asymmetry of tooth dimensions was also found, but for the mesiodistal dimensions these were not significantly different from the control group. The occurrence of reductions in tooth size and left-right asymmetries suggests that oligodontia is not just an isolated phenomenon. The left-right asymmetry indicates a developmental instability in these individuals. More research is needed, to reveal the aetiology and pathogenesis of oligodontia.

Adolescent↗
PubMed1994

Symptomatology of patients with oligodontia.

The aims of the present study were: (i) to identify the association of patterns of congenitally missing teeth with combinations of ectodermal symptoms occurring in patients with oligodontia; and (ii) to propose a diagnostic scheme for the general practitioner. For this study 167 patients with oligodontia, both isolated and as part of a syndrome, and 135 healthy controls were interviewed and documented. Chi-square tests, logistic regression and correspondence analysis were used to evaluate and test differences between the groups and associations between the congenitally missing teeth and ectodermal symptoms. No significant differences were found between the control group and the patients with isolated oligodontia with exception of the skin. It could be concluded from the present study that there were no clear associations between congenitally missing teeth, either individually or patterns, and the ectodermal symptoms or combinations of ectodermal symptoms. However, it could be concluded that if the most stable teeth are missing, or if the number of missing teeth is large the patient should be examined carefully for symptoms of ectodermal dysplasia. Using logistic regression a patient could be classified as having isolated oligodontia or oligodontia as part of a syndrome with a specificity and sensitivity of 88.2%.

Abnormalities, Multiple↗
PubMed1994

DOOR syndrome: additional case and literature review.

We report on a patient with sensorineural deafness, onycho- and osteodystrophy and mental retardation (DOOR syndrome) and review the literature. It appears that abnormal dermatoglyphics are a frequent feature of the DOOR syndrome, as all patients with DOOR syndrome in whom dermatoglyphic investigations were done, had multiple arches on their fingertips.

Bone Diseases↗
PubMed1993

Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies.

A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the origin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.

Abnormalities, Multiple↗
PubMed1993

Familial elastosis perforans serpiginosa.

BACKGROUND: Elastosis perforans serpiginosa (EPS) is an uncommon skin disease characterized by transepidermal elimination of abnormal elastic fibers. The disease is frequently associated with congenital connective tissue disorders or Down's syndrome. The pathogenesis of EPS is still unclear. There are a few reports in the literature about a familial occurrence of EPS in which different modes of inheritance are suggested. To support the hypothesis of a congenital origin of the disease, we have studied another family with EPS. OBSERVATIONS: In this study, we describe a family in which two sisters and a brother were affected by EPS. The father and three paternal uncles were most probably affected by the same disease. There were no signs of other congenital connective tissue disease in the family members. CONCLUSION: An autosomal dominant mode of inheritance with variable expression of EPS is suggested.

Adult↗