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H Rehder

Publications and source records attributed to H Rehder.

At least 19 recordsLinked to original sources
PubMed1998

Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

We report on a female with mental and motor retardation, facial dysmorphism, abnormal pigmentation reminiscent to hypomelanosis of Ito (HI), and karyotypic mosaicism involving a small supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridisation (FISH) as a ring X chromosome with breakpoints in the juxtacentromeric region. FISH analysis showed that the ring does not include the XIST locus at the X-inactivation centre and, therefore, may not be subject to X inactivation. X-inactivation studies with the HUMARA (human androgen receptor) and FMR1 assay showed a skewed X-inactivation pattern (85:15) with preferential inactivation of the paternal X chromosome. These results are discussed with respect to the role of functional disomy of Xp in the pathogenesis of HI.

Child, Preschool↗
PubMed1998

Prenatal diagnosis and obstetric management of Larsen's syndrome in a patient with an unrecognized family history of the disease.

We report the third case of a prenatal diagnosis of Larsen's syndrome, which is the first report affecting both a 37-year-old primiparous caucasian woman and her fetus not considered to have Larsen's syndrome until the finding of bilateral clubfeet was demonstrated on screening ultrasound at 23 weeks of gestation. History and physical examination of the pregnant woman revealed severe impairment in the mobility of hip, elbow and knee joints starting in early childhood. Additional findings were spatulate thumbs and a flat nasal bridge. The mother of the pregnant woman demonstrated similar joint symptoms. The differential diagnosis of Larsen's syndrome was considered for the first time in both women. The patient wished to terminate her pregnancy, as the potential early onset of the same disorder was suggested by the finding of clubfeet. An intraamniotic instillation of ethacridinic acid was performed. On pathological examination including radiography of the male stillborn, various anomalies of the face, and upper and lower extremities were demonstrated compatible with Larsen's syndrome.

Abortion, Induced↗
PubMed1998

Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder.

A comprehensive seven-step study on THANATOPHORIC DYSPLASIA without cloverleaf skull (TD Type I) was carried out postmortem on three aborted fetuses of 19, 26-27, and 34 weeks and one preterm neonate of 35 weeks gestation, respectively. The characteristic x-ray configuration of the spine in TD Type I presenting with H-, U- or reversed U-shape vertebrae were shown to correlate with the inclination or reclination of the vertebral bodies within a kyphotic or lordotic segment. The bowing of the tubular bones in TD Type I is explained by a diminished mechanical stability that is causally related to a specific cartilage structure. The perichondral spurs are defined by their morphologic structure, and their origin is attributed to a normal perichondral ossification in the presence of an impaired enchondral ossification. Impairment of enchondral ossification was more evident in the periphery than in the center of the metaphyses leading to a tongue-shaped osseous cone directed toward the epiphysis. The perichondral spurs and the linguiform enchondral growth plate resulted in a three-phase maple leaf-like contour of the metaphyses of tubular bones and acetabular roof. The nature of the perichondral fibrous bands, the fibrovascular bundles, and the fibrovascular bands of the growth plate and their significance in atypical ossification processes are discussed in detail. It is suggested that the diminished longitudinal growth of the skeleton is caused by a reduced mitotic activity of cartilage cells in the proliferative zone leading to a reduction of cell numbers in the columnar zone transversely oriented spongiosa bars resulting from desmal ossification of the metaphyseal fibrovascular structures.

Bone and Bones↗
PubMed1997

Microdeletion 22q11 in complex cardiovascular malformations.

Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA probe and for associated CATCH features. The patients were from genetic counseling (n = 15) or fetopathology (n = 3) of the Clinical Genetics Department in Marburg and from the Pediatric Cardiology Department (n = 22) in Mainz. Monosomy 22q11 was detected in 9 cases (= 22.5%). Familial transmission with one mildly affected parent and one affected sib each was proven in two cases. The CCVDs comprised complex conotruncal defects such as tetralogy of Fallot, double outlet right ventricle, transposition of great arteries and truncus arteriosus communis, or anomalies of the derivatives of the branchial arch arteries in association with a ventricular septal defect, including one case of atresia of the ductus arteriosus with pulmonary artery aneurysm and resulting in fetal hydrops. All 13 patients with a deletion of 22q11 showed at least one additional CATCH symptom. Most consistently, facial dysmorphy was apparent (92%), while hypocalcemia, mostly at threshold values, was present in 62% and thymic hypoplasia including borderline low T-lymphocyte numbers was observed in 41%. None of the patients presented with a cleft palate. A high intrafamilial variability in expression was also evident with respect to the CCVD. Our findings indicate that seemingly isolated complex cardiovascular defects associated with a 22q11 microdeletion most probably do not represent a distinct subgroup within the CATCH-22 complex but are syndromal in nature with extracardiac features that are often overlooked.

Adolescent↗
PubMed1997

Neural tube defects in chromosomally normal and abnormal human embryos.

Neural tube defects (NTDs) were recognized in eight out of 91 intact embryos from spontaneous abortions and in one case of an induced abortion following prenatal diagnosis of a chromosomal disorder. Five of the nine cases showed chromosomal abnormalities. Trisomy 18 and triploidy were associated with spina bifida in three cases, trisomy 7 with parieto-occipital encephalocele and monosomy X with spina bifida and iniencephaly in one case. A sixth anencephalic embryo in which chromosomal analysis was not performed showed a malformation pattern highly suggestive for trisomy 18. Discussion focuses on the high rate and the type of chromosomal abnormalities among spontaneously aborted NTD embryos, on the contrasting phenotype of 45,X conceptions and on the morphogenesis of the different neural tube defects in early development. In view of future early endovaginal ultrasound diagnosis, the changing morphological pattern is exemplified, and ranges from apparently hyperplastic to degenerative alterations of the exposed neural tissue.

Chorionic Villi Sampling↗
PubMed1997

Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns' syndrome.

We present a case of a fetus who at a 12-week ultrasound examination was shown to have a large cystic hygroma. Fryns' syndrome was suspected because the mother's previous pregnancy had been affected by the condition. Pathological examination confirmed the diagnosis at this early stage of gestation. In families with increased risk for Fryns' syndrome, first-trimester ultrasound screening should be offered to exclude cystic hygroma as an ultrasound marker for this most often lethal malformation.

Abnormalities, Multiple↗
PubMed1996

VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.

VACTERL association is defined as a combination of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies, in particular radial defects. In recent years hydrocephalus was observed in patients with apparent VACTERL association. This particular condition was recognized as a hereditary entity with poor prognosis. Both autosomal recessive and X-linked forms were described. Here we report prenatal, clinical and autopsy findings in 2 brothers with this syndrome, who had, in addition, branchial arch anomalies. The recurrence in this family suggests X-linked inheritance. Branchial arch defects have so far not been described as part of the VACTERL+H syndrome. This observation further supports that a variety of brain anomalies including hydrocephalus associated with VACTERL anomalies represents separate entities with a considerable recurrence risk. The use of the term VACTERL "association" for these conditions is misleading and is discouraged.

Abnormalities, Multiple↗
PubMed1996

Proliferation kinetics of chorionic villi in chromosomally normal and abnormal spontaneous abortions analyzed by premature chromosome condensation and northern blot.

The activity of cell proliferation in human chorionic villi (CV) obtained from early spontaneous abortions (SAB) and from elective abortions (EAB) was determined by means of premature chromosome condensation (PCC), and by Northern blot analysis of expression of proliferation antigens Ki67 and PCNA. The rate of chromosome aberrations among the SABs was 57%, while the EABs, taken as controls, were shown to be chromosomally normal. PCCs were induced by fusion of the chorionic interphase cells with mitotic Chinese hamster ovary (CHO) cells. To analyze the proliferation stages of the chorionic G1-interphases, the potential proliferation index (PPI) was ascertained. The PPI values found in SABs ranged from 36% to 97% as described for intensely proliferating tissues. They did not differ from the values found in the controls (34-90%), indicating maintenance of proliferation activity of CV cells even after death of the embryo in missed abortions. No significant PPI differences were observed between the abortion groups with different cytogenetic results. The expression of proliferation associated antigens Ki67 and PCNA showed no significant differences between mean values of the total of SABs and of the controls. However, the comparison of mean values of chromosomally abnormal with chromosomally normal SABs revealed a significantly reduced Ki67 activity in the SABs with chromosome aberrations. A similar results was obtained when comparing mean values of Ki67 and PCNA expression from trisomic SABs with those of the controls. By further subdivision of chromosome aberrations a decrease for the expression of both antigens in chorionic villi from early lethal trisomies, and a significantly increased Ki67- and PCNA-expression in triploidies became evident.

Abortion, Induced↗
PubMed1995

Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.

The parental origin of the additional chromosome complement in a total of 17 cases of triploidy was determined mainly using highly polymorphic microsatellites. Maternal origin of the triploidy was demonstrated in most cases. To the best of our knowledge, this is the first systematic evaluation of the parental origin of chromosome sets in fetuses who survived until a cytogenetic diagnosis was established. In contrast to previous investigations this study documented a predominance of maternal origin of the extra haploid set mainly due to longer survival time for digynic triploidies. The concept of 2 distinct fetal phenotypes in triploidy is clearly supported by this study.

Adult↗
PubMed1995

Extreme hypotrophy of the lower body pole, extensive hypoplasia of the spinal column and multiple anomalies of abdominal organs: a maximal variant of the caudal regression sequence?

A newborn with extreme hypotrophy of the lower body pole and aplasia of the lower spinal column is reported. Additional anomalies of internal organs included absence of one kidney and ureter, a diaphragmatic hernia, and anal atresia. Part of the organs located in the lower body pole were necrotic. There were no excretory apertures, and external genitalia were absent. Chromosomal analysis revealed a 46,XY karyotype. The multiple anomalies seen in this newborn may be interpreted as a maximal variant of the caudal regression sequence.

Abnormalities, Multiple↗
PubMed1994

[Pathologic embryo examinations of induced and spontaneous abortions in the 1st trimester of pregnancy].

Morphological examination methods which are appropriate for detection of embryonic developmental defects are presented. The main emphasis is put on autopsy of small embryos using a dissection microscope and on documentation of the embryonic skeleton by means of skeleton staining. Through presentation of the embryopathological findings in 15 first-trimester abortion specimens we demonstrate that these examination techniques frequently allow diagnosis of isolated malformations as well as malformation syndromes, even in the fragmented or macerated embryo. Careful embryopathological examination and evaluation is a precondition for genetic counselling, as well as for goal-directed prenatal diagnostic measures in future pregnancies.

Abortion, Eugenic↗
PubMed1994

[Familial akinesia-hypokinesia sequence (Pena-Shokier phenotype)].

The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.

Abnormalities, Multiple↗
PubMed1993

Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings.

Teebi and Shaltout [1989: Am J Med Genet 33: 58-60] described a new syndrome of craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage in children born to a consanguineous couple. We report on a second family with the same pattern of anomalies occurring in a liveborn female and 3 spontaneously aborted fetuses, and include autopsy findings. As additional findings 2 of our cases had unilateral microphthalmia and kidney anomalies. Our observation confirms that this pattern of anomalies is a distinct syndrome with autosomal recessive inheritance; we suggest the synonym Teebi-Shaltout syndrome.

Abnormalities, Multiple↗
PubMed1993

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence.

Abnormalities, Multiple↗