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C T Schrander-Stumpel

Publications and source records attributed to C T Schrander-Stumpel.

At least 19 recordsLinked to original sources
PubMed2006

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

Costello syndrome (CS) is a rare multiple congenital anomaly/mental retardation syndrome characterized by coarse face, loose skin and cardiomyopathy. It is often associated with benign and malignant tumors. Several groups have now demonstrated that CS is caused by recurring mutations in the HRAS gene in different ethnic groups. Here, we describe three unrelated Dutch patients and show that they all have the same mutation, G12S, in HRAS. To our knowledge, our patients are the first Dutch to be analysed. The syndrome seems to be genetically homogeneous. We discuss the pertinent nosology of the syndrome.

Abnormalities, Multiple↗
PubMed2004

A patient with a de novo 11q24.2-->qter deletion.

In the group of patients with terminal 11q deletion reported up to now. Jacobson syndrome has been delineated as a distinct clinical entity. In the present report we describe the clinical findings in a 3-year old girl with de novo deletion 11q24.2-->11qter, and compare the findings with Jacobson syndrome.

Child, Preschool↗
PubMed2001

Acampomelic campomelic syndrome.

Campomelic syndrome (or campomelic dysostosis, CD; MIM *114290) is an autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of long bones, especially of the lower limbs. Additional radiological and clinical findings are 11 pairs of ribs and a bell-shaped thorax, hypoplastic scapulae, narrow iliac wings, non-mineralized thoracic pedicles, clubbed feet, Robin sequence, typical facial anomalies and tracheomalacia. The disorder is frequently lethal due to respiratory distress. Sex reversal occurs in most patients with an XY karyotype. CD is caused by heterozygous mutations in the SOX9 gene, an SRY-related gene at 17q24.3-q25.1 with pleiotropic effects on the skeletal and genital systems. In addition, cases with chromosomal rearrangements involving 17q have been described that are most likely caused by disturbing one or more cis-regulatory elements from an extended control region. Campomelia (bowed limbs) is seen in most but not all patients, defining a so-called acampomelic campomelic dysostosis (ACD). Half of the CD cases with 17q rearrangements have no or mild campomelia. Furthermore, campomelia is absent or only mildly present in a small subgroup of cases with a normal karyotype. We present a chromosomally normal boy with ACD and his clinical follow-up up to the age of 2 years, in whom a heterozygous SOX9 missense mutation (H165Y) was identified. A SOX9 missense mutation was published in two other patients with ACD. Although up to now a general genotype-phenotype correlation could not be established for CD, a correlation emerges for the ACD variant that needs further confirmation.

Bone Diseases, Developmental↗
PubMed2001

Holoprosencephaly: the Maastricht experience.

Holoprosencephaly (HPE) is a developmental field defect with impaired cleavage of the embryonic forebrain as the cardinal feature. The prevalence is about 1 in 11.000-20.000 in live births and 1 in 250 during embryogenesis. In most cases, craniofacial abnormalities are associated and reflect in 80% of cases the degree of severity. The severity is of marked variability and ranges from cyclopia to minimal craniofacial dysmorphism, such as mild microcephaly with a single central incisor. The etiology of HPE is very heterogeneous and comprises environmental factors (e.g. maternal diabetes) and genetic causes. Approximately 50% of HPE cases are associated with a cytogenetic abnormality (the most common of which is trisomy 13) or a monogenic syndrome. Based on recurrent cytogenetic abnormalities, there are at least 12 genetic loci that likely contain genes implicated in the pathogenesis of HPE. Currently, four human HPE genes are known: SHH at 7q36, ZIC2 at 13q32, SIX3 at 2p21 and TGIF at 18p11.3. Over the past 13 years, 16 patients with HPE have been observed at the Department of Clinical Genetics at Maastricht. Some of them are briefly presented in order to emphasize the spectral nature of HPE and the etiological heterogeneity. One patient appeared to have a partial 18p deletion due to a maternal cryptic translocation t(1:18) and, in addition, a SHH mutation. The mildest affected patient presented with microcephaly and a single maxillary incisor; she had a submicroscopic 7q deletion. Finally, we propose a protocol of etiological work-up of HPE cases.

Brain↗
PubMed2000

[Klinefelter syndrome in young children: possibility of diagnosis].

In one boy aged 7 years with a micropenis, and in 3 boys aged 6, 4 and 5 years with delayed speech and language development and behavioural problems, Klinefelter's syndrome was diagnosed. In the first case the diagnosis was immediately suspected because of the micropenis. The other three boys were diagnosed after long observation. One of them was suspected of having a chromosomal abnormality because of behavioural problems together with a typical, female fat distribution pattern. If a delayed speech and language development and behaviour problems are present, Klinefelter's syndrome should be considered, especially if tallness and (or) small genitals are present.

Body Constitution↗
PubMed2000

Activity related energy expenditure in children and adolescents with Prader-Willi syndrome.

OBJECTIVE: To measure activity related energy expenditure in Prader-Willi syndrome (PWS) corrected for body size. SUBJECTS: 17 PWS subjects (10 females, seven males, age 7.5-19.8 y) and 17 obese controls, matched for gender and bone age. MEAUREMENTS: Basal metabolic rate (BMR) was measured by ventilated hood and average daily metabolic rate (ADMR) was measured with doubly labelled water. Activity induced energy expenditure (AEE) was calculated as 0.9ADMR -BMR. Activity related energy expenditure was corrected for body size using the following measures: AEE per kg body weight (AEE/kg), ADMR/BMR (PAL), and the residual of the regression of ADMR on BMR (rADMR). Group differences were analyzed by analysis of covariance adjusting for bone age, fat mass (FM) and gender. RESULTS: ADMR, AEE and PAL were lower (P < 0.01) in the PWS group compared with the control group (7.14 +/- 1.72, 1.07 +/- 0.69 and 1.33 +/- 0.15 MJ/day compared with 9.94 +/- 2.64, 2.56 +/- 1.03 and 1.55 +/- 0.12 MJ/day respectively). The variance of AEE/kg and PAL was significantly explained by gender and PWS, while AEE was additionally explained by FM. The variance of rADMR was explained by PWS and not by FM or gender. CONCLUSION: Activity related energy expenditure is decreased in PWS compared with controls adjusted for bone age, FM and gender.

Adolescent↗
PubMed2000

Energy expenditure at rest and during sleep in children with Prader-Willi syndrome is explained by body composition.

BACKGROUND: Obesity in Prader-Willi syndrome (PWS) seems to be related to a low basal metabolic rate (BMR). In addition, abnormal sleep patterns reported in PWS might affect sleeping metabolic rate (SMR). OBJECTIVE: Our objective was to assess BMR and SMR adjusted for fat-free mass in young PWS patients. DESIGN: Subjects were 17 PWS patients (10 females and 7 males aged 7.5-19.8 y) and 17 obese control subjects matched for sex and bone age. SMR was measured in a respiratory chamber, BMR with a ventilated-hood system, and body composition by deuterium dilution. RESULTS: BMR and SMR were significantly lower in the PWS group than in the control group (5.36 +/- 1.18 and 4.62 +/- 1.08 MJ/d compared with 6.38 +/- 1.55 and 5.60 +/- 1.52 MJ/d, respectively; P < 0.05). When fat-free mass was included in the analysis, multiple regression showed no differences in BMR and SMR between groups. When weight was included in the analysis instead of fat-free mass, SMR was lower in the PWS group. Fat-free mass was lower in the PWS group both as an absolute value and when adjusted for height. CONCLUSION: BMR and SMR are low in young patients with PWS because of a low fat-free mass.

Adolescent↗
PubMed2000

Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH.

MicroFISH was used to elucidate the chromosomal origin of a prenatally detected marker chromosome. Five copies of the marker chromosome were collected from GTG-banded metaphases and amplified by means of DOP-PCR. The PCR product was labeled with blotine-14-dATP and used as a FISH probe for hybridization to metaphase chromosomes of the fetus (reverse painting). The marker appeared to be derived from the short arm of (an) acrocentric chromosome(s). After FISH with centromere-specific and band-specific probes complete characterization was possible and the marker chromosome appeared to consist of two short arms of chromosome 22. The pregnancy was continued and one year after birth the patient is developing normal.

Chromosome Inversion↗
PubMed2000

De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.

De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient presenting with severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-set ears, camptodactyly and tapering fingers, and cutaneous syndactyly of toes II and III of the right foot. The MRI showed some loss of volume of the white matter and delayed myelination, no other specific anomalies were present. Chromosome analysis revealed a translocation involving chromosomes 2 and 18, which was characterized further by FISH using band-specific probes. The possibility of a submicroscopic deletion is discussed and the patient is compared with patients reported in the literature with either 2q21 or 18q22 deletion.

Chromosome Deletion↗
PubMed2000

An adult patient with a distal interstitial 14q deletion: clinical report and literature review.

We report a patient with an interstitial 14q32.1-->q32.3 deletion and review the literature. The adult patient presented with moderate mental retardation, a friendly behavior and a non-specific phenotype. The deletion seemed to be terminal but with FISH probes appeared to be interstitial. Comparison with other 14q terminal and interstitial deletion patients reported in literature and those with a ring 14 chromosome is given.

Adult↗
PubMed2000

14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies.

A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus material were normal male: in cultured amniocytes a distal deletion 14q32 was demonstrated and confirmed by FISH analysis. The baby was born at 37 weeks and died spontaneously during labour. This is the first report of prenatal diagnosis of a terminal 14q deletion.

Abnormalities, Multiple↗
PubMed2000

Trisomy 7p: report of 2 patients and literature review.

Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.

Abnormalities, Multiple↗
PubMed1999

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with Prader-Willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and Angelman syndrome was demonstrated.

Child↗
PubMed1999

Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?

We report a 6 year old boy with multiple fractures owing to bilateral, peculiar, wave-like defects of the tibial corticalis with alternative hyperostosis and thinning. Furthermore, he had Wormian bones of the skull, dentinogenesis imperfecta, and a distinct facial phenotype with hypertelorism and periorbital fullness. Collagen studies showed normal results. His sister, aged 2 years, showed the same facial phenotype and dental abnormalities as well as Wormian bones, but no radiographical abnormalities of the tubular bones so far. The mother also had dentine abnormalities but no skeletal abnormalities on x ray. This entity is probably the same as that described in a sporadic case by Suarez and Stickler in 1974. In spite of the considerable overlap with osteogenesis imperfecta (bone fragility, Wormian bones, and dentinogenesis imperfecta), we believe this disorder to be a different entity, in particular because of the unique cortical defects, missing osteopenia, and normal results of collagen studies.

Bone Diseases↗
PubMed1998

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Abbreviations as Topic↗
PubMed1998

Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?

The Axenfeld-Rieger anomaly is a defect of the anterior chamber of the eye affecting the angle structures. If accompanied by hypodontia, midface hypoplasia, and umbilical anomalies, the designation "Rieger syndrome" is appropriate. Both conditions are autosomal dominant traits. The Axenfeld-Rieger anomaly is also known to occur in a variety of other syndromes. We report on two sisters, born to consanguineous parents, who presented with Axenfeld-Rieger anomaly, hydrocephalus, leptomeningeal calcifications, and mild mental retardation. Their height was on and just below the 3rd centile, respectively. One of them suffered from epilepsy and the other from sensorineural hearing loss. Two of their brothers died at young ages of hydrocephalus and possibly had intracranial calcifications as well. The differential diagnosis is discussed. Of the known syndromes associated with Axenfeld-Rieger anomaly, none could be convincingly applied to the propositae. Possibly, they represent a previously unreported autosomal recessive syndrome.

Abnormalities, Multiple↗