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J B Bijlsma

Publications and source records attributed to J B Bijlsma.

At least 19 recordsLinked to original sources
PubMed2005

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.

Abnormalities, Multiple↗
PubMed2005

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.

A female infant with dysmorphic facial features, psychomotor retardation, and clitoris hypertrophy is described. Molecular cytogenetic analyses revealed a de novo unbalanced translocation, causing partial monosomy 1p36 and partial trisomy 18q22. Monosomy 1p was confirmed by FISH, and trisomy of the distal part of chromosome 18q was demonstrated by microFISH. Gene copy number changes in these chromosomal regions were determined by array-CGH. The absence of a number of facial dysmorphic signs, and the presence of clitoris hypertrophy indicate that the combination of a del(1p36->pter) with a dup(18q22->qter) may lead to a unique phenotypic constellation. The findings at birth and at age 12 years in our patient are compared with genotype-phenotype correlations discussed in the literature.

Abnormalities, Multiple↗
PubMed1998

Atelencephalic microcephaly: a case report and review of the literature.

UNLABELLED: Atelencephalic microcephaly is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary prosencephalon; in aprosencephaly, a more severe form of cerebral malformation, both prosencephalic and diencephalic derivatives fail to develop; both conditions form the aprosencephaly/atelencephaly spectrum (AAS). In the literature 20 cases with atelencephaly or aprosencephaly have been described. Except for the brain malformation other congenital abnormalities seem to be present more often in patients with aprosencephaly. In two patients (one with atelencephaly and one with aprosencephaly) an aberration of chromosome 13 was found. We report on a prematurely born microcephalic male infant with a severely malformed calvarium with overlying rugged skin, non-fused cranial sutures, absent fontanelles, and multiple contractures. CT scan of the brain revealed neither cerebral hemispheres, nor ventricles and a diagnosis of atelencephalic microcephaly was made. In the literature two sibs have been described, products of consanguineous parents, who were the only ones with cerebellar dysgenesis. Aprosencephaly/atelencephaly spectrum in combination with cerebellar dysgenesis seems to be an autosomal recessive syndrome. CONCLUSIONS: Atelencephalic microcephaly is a distinct entity and should be differentiated from anencephaly and the fetal brain disruption sequence. The aetiology of the disorder is unknown.

Humans↗
PubMed1997

The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.

In medical genetics, several systems are used to classify and code genetic disorders for the purpose of automated registration. In the Netherlands, a genetic diagnosis code system has been developed that links a unique four-digit code to a principal description and all current synonyms. The main goal of this coding system is to enable nationwide uniformity of coding, without losing access to information stored in the past, identified by the ICD/BPA code (the International Classification of Diseases as adapted by the British Paediatric Association) and/or the MIM code (McKusick's classification in Mendelian Inheritance in Man). To this effect, the Dutch diagnosis code is cross-referenced with the 2 pre-existing classification systems. Developments in medical genetics make regular updates of all coding systems necessary. In the Netherlands, new diagnosis codes are assigned centrally to preserve uniformity and distributed periodically to all 8 clinical genetic centers. Diagnosis codes are assigned in numerical order of inclusion, enabling quick and easy updates. It is possible to include subclassifications of disorders according to pattern of inheritance, gene location, and gene mutations and to cover all disorders and disorder subtypes which are not clearly distinguished by the 2 pre-existing classification systems. The architecture of the coding system is suitable for international use. It offers a practical solution for clinical geneticists in need of a coding system suitable for clinical use. The use of the diagnosis code will also facilitate reliable comparison of data and nationwide genetic epidemiological studies.

Congenital Abnormalities↗
PubMed1997

Interstitial deletion 11q. Case report and review of the literature.

A mildly retarded male with a unique interstitial deletion 11 (pter-->q22.3::q23.2-->qter) is described. To the best of our knowledge this patient is the first case with this specific type of deletion. The clinical features and cytogenetic findings of this patient are compared with those of previously reported cases with interstitial deletions 11q and patients with terminal deletions involving band 11q24.1 (leading to the so-called Jacobsen syndrome).

Abnormalities, Multiple↗
PubMed1996

Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.

A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with mental retardation as a constant feature. Little is known about the outcome and level of functioning of patients with this condition. We present the follow-up of a patient with partial trisomy 9p who has been regularly examined from birth until age 10 years.

Abnormalities, Multiple↗
PubMed1995

Genetic heterogeneity of hereditary motor and sensory neuropathy type VI.

Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that shape peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neuropathy. Clinical features of hereditary motor and sensory neuropathy type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to optic atrophy. Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with peroneal muscular atrophy in association with optic atrophy. Since then, at least nine similar cases have been reported: three sporadic cases, two pairs of siblings who were offspring of consanguineous parents, and one pair of siblings who were offspring of unrelated parents suggesting autosomal recessive inheritance. Vertical transmission has been reported only by Vizioli. We present a father and two offspring (one boy and one girl) with the above-mentioned characteristic features of hereditary motor and sensory neuropathy type VI. Vizioli's kinship and either an autosomal recessive or autosomal dominant pattern of inheritance.

Child, Preschool↗
PubMed1992

Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome.

We report clinical, orofacial and radiological manifestations in a 4-year-old girl and a 33-year-old female with the Gorlin-Chaudhry-Moss (GCM) syndrome. Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia. Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development. Hypoplasia of the distal phalanges of fingers and toes (also present in the 2 original cases) represents a further manifestation of the GCM syndrome.

Abnormalities, Multiple↗
PubMed1992

Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. A differential diagnostic problem?

The authors describe a female patient with unilateral malformations of skin, cerebrum and eye. The symptoms consisted of local skin hypoplasia, skin appendages and lipomatous tissue; cysts, hypoplasia and lipomatosis of the brain; and ocular malformations. In the newborn period the symptoms led to the diagnosis of oculocerebrocutaneous (OCC) syndrome. In the first year of life the clinical course deteriorated and the psychomotor development was progressively retarded. Evaluation at the age of 15 months prompted the authors to change the diagnosis to encephalocraniocutaneous lipomatosis (ECCL). The differential diagnosis of ECCL and OCC syndromes is discussed and a possible common pathogenetic pathway of these two rare disorders is proposed.

Abnormalities, Multiple↗
PubMed1988

Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1988

Megalencephaly: definition and classification.

The various definitions and classifications of megalencephaly are reviewed, and numerous diseases and syndromes associated with megalencephaly are listed. A new definition of megalencephaly based on quantitative radiographic features is proposed. We define megalencephaly as a brain volume which exceeds the mean by more than twice the standard deviation. Furthermore, a modified etiopathogenic classification of megalencephaly results in three main groups, viz anatomic, metabolic and dynamic megalencephaly. The clinical pictures in these main groups of megalencephaly, and the largest subgroup of anatomic megalencephaly, familial anatomic megalencephaly, appear to be quite different.

Brain↗
PubMed1988

Treatment of intact familial intracranial aneurysms: a decision-analytical approach.

Clinical decision analysis is applied to the treatment decisions for four patients with unruptured familial aneurysms. The surgical treatment was uneventful in all patients except one with mild mixed aphasia and facial weakness postoperatively; these deficits disappeared in less than 2 years. In the decision analysis, discounted Quality Adjusted Life Years are used as an outcome measure. Probability estimates are extracted from the literature when available. It is concluded that the decision to treat the aneurysm neurosurgically in three of the four patients was correct. In two of these three patients, the decision cannot be altered by plausible changes in estimated data. For the third patient, only the combination of a low probability of rupture, a high surgical mortality and morbidity, and high discount favors conservative treatment. In the fourth patient, a toss-up situation exists. More knowledge of the probability of rupture, the probability of the development of other aneurysms, and the results of operation on intact intracranial aneurysms would have made the analysis more accurate. Clinical research should address these issues.

Adult↗
PubMed1987

Further delineation of the 3-M syndrome with review of the literature.

The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies. Intelligence seems normal. Inheritance is probably autosomal recessive, with possible expression of the mutant gene in the heterozygote. Three sibs with the 3-M syndrome are reported, together with an extensive review of the pertinent literature.

Bone Diseases, Developmental↗
PubMed1987

Detection of unruptured familial intracranial aneurysms by intravenous digital subtraction angiography. Screening of two affected families.

The authors discuss the detection of intracranial aneurysms (IA) by means of intravenous digital angiography (ivDSA) in (a)symptomatic first degree relatives of families in which two or more individuals have IA. ivDSA is an almost noninvasive and low-risk diagnostic procedure. Screening, by means of ivDSA, of two affected families is described. In family I which includes 7 members with proven IA, ivDSA has been carried out in 36 asymptomatic individuals: in one, a 6 X 15 mm aneurysm was found at the left posterior communicating artery (PCoA). In family II, including one member with a proven IA and another with a subarachnoid hemorrhage, ivDSA has been carried out in 4 members: one aneurysm with a diameter of 6 mm was found at the left PCoA. Conventional cerebral angiography (CCA) confirmed both IA's. Neurosurgical treatment followed. The advantages and disadvantages of ivDSA vs. CCA as elective screening procedure in such cases are discussed. Screening of asymptomatic first degree relatives of cases with familial IA by means of ivDSA is strongly advocated.

Adult↗
PubMed1987

Familial occurrence of intracranial aneurysms in childhood: a case report and review of the literature.

This report describes three individuals belonging to one family, who were affected with ruptured intracranial aneurysms (IAs) at a rather young age, 4, 15 and 23 years respectively. Familial IAs at this young age have not been described before. The evidence for a developmental, eventually inherited origin of familial IA in childhood is discussed with reference to the low occurrence of non-familial IA in childhood, IA-features in non-familial cases (localisation, multiplicity, size) and the association with (other) congenital malformations in the 0-5 years group.

Adolescent↗
PubMed1987

[Prognosis in the cri-du-chat syndrome].

Cri-du-chat syndrome (5p-) is one of the most frequently occurring chromosomal deletion syndromes in man. Clinical findings have been described extensively in literature, but documentation of the patients' mental development has been poor. Recently the clinical heterogeneity and variance in psychomotor development was studied in a large series of patients. Review of the literature revealed that some 15% of the cases were found to be familial, there appears to be a slight correlation between karyotype and phenotype and the positive effects of early stimulation programs on the patients' prognosis is pointed out. Some 60% of the patients need regular medical care and nearly all are mentally retarded. However a wide spectrum of developmental abilities is displayed and a number of patients can be reared at home for several years. Life expectancy depends on the number and severity of birth defects.

Child Development↗