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Biomedical subjects

P Moerman

Publications and source records attributed to P Moerman.

At least 145 records · Page 8Linked to original sources
PubMed1988

The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.

We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.

Abnormalities, Multiple↗
PubMed1988

The pathology of trisomy 13 syndrome. A study of 12 cases.

Anatomical and histopathological findings in 12 cases of trisomy 13 syndrome (nine with classic full trisomy and three with trisomy 13 and an unbalanced Robertsonian 13/13 translocation) are reported. Emphasis is on the brain defects, cardiovascular anomalies, and histological organ dysplasia. Eight patients showed abnormal development of the forebrain and midline facial structures (holoprosencephaly). Cardiovascular malformations were invariably present, the leading malformation being an infundibular ventricular septal defect often in combination with dextroposition of the aorta and abnormalities of the semilunar valves. Histological abnormalities giving evidence of organ dysplasia were observed in the central nervous system, eyes, pancreas, kidneys, and ovaries. Mild cystic renal dysplasia was a constant feature. Foci of persistent nodular renal blastema were found in six cases. The pancreatic dysplasia appears to be pathognomonic for trisomy 13. These observations illustrate the importance of pathological studies in the recognition of chromosome abnormalities and, more specifically, of trisomy 13 syndrome. Based on autopsy data, trisomy 13 can be diagnosed - or ruled out - with certainty, even in the absence of karyotyping.

Abnormalities, Multiple↗
PubMed1988

Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.

In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenital heart abnormalities (large atrial and ventricular septal defects), congenital hypothyroidism, and severe global retardation. We have observed a male newborn with a similar pattern of malformations (figs. 1 and 2).

Facial Bones↗
PubMed1988

The fetal phenotype in 15q2 duplication.

In this report we summarize the findings in a prenatally diagnosed male fetus with 15q2 trisomy. The craniofacial findings were identical to those in liveborn patients with this type of partial autosomal trisomy. A short review of the 15q2 trisomy syndrome is presented.

Chromosome Aberrations↗
PubMed1987

Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology.

We describe two infants dying neonatally of respiratory failure despite all attempts at resuscitation. The most striking finding at autopsy was eventration and reduced muscle content of the diaphragm. Microscopic examination of the skeletal muscles, in combination with retrospective evaluation of the family history, disclosed severe X-linked centronuclear myopathy in the first patient and congenital myotonic dystrophy in the second. These disorders are probably more frequent than reported before. Their identification is important, not only for genetic counseling of the involved families but also for providing the neonatologist a sufficient explanation for the failure of resuscitation.

Diaphragmatic Eventration↗
PubMed1987

Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset.

The clinical and pathological features of a female neonate with congenital joint contractures and pulmonary hypoplasia are described. Neuropathological examination revealed a widespread neuronal degeneration with a predominantly olivo-ponto-cerebellar distribution and muscle pathology consistent with neurogenic atrophy. This is the first reported case of congenital joint contractures and pulmonary hypoplasia with pathologically documented olivo-ponto-cerebellar degeneration. The observation further illustrates that the so-called fetal akinesia sequence or Pena-Shokeir I syndrome is an aetiologically non-specific symptom complex that can be caused by a number of underlying mechanisms.

Atrophy↗
PubMed1987

X-linked centronuclear myopathy as a cause of floppy baby.

Two families with X-linked recessive centro-nuclear myopathy (XLR-CNM) are described. Evidence is accumulating that XLR-CNM forms a distinct entity, in contrast to the commoner later-onset forms. Family history often provides a clue to the diagnosis. Pregnancy is very often complicated by hydramnios and reduced fetal movements. We describe two families with five affected male babies who all died. An isolated case with severe fetal brady-arrhythmias in combination with acute increase in polyhydramnios is mentioned. The neonatal mortality in all recorded cases is 80 percent, with respiratory insufficiency as the cause of death. An attempt is made to establish early prenatal diagnosis and the possibility of carrier detection is briefly discussed.

Adult↗
PubMed1987

Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3).

In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1----p15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.

Abnormalities, Multiple↗
PubMed1987

Epidermal Langerhans' cells and dermal dendritic cells in human fetal and neonatal skin: an immunohistochemical study.

The dendritic cells in skin biopsies from 36 fetuses (from 16 weeks' gestational age on) and neonatal infants of different ages were investigated using a number of markers for various cells of the immune system and immunohistochemistry. Epidermal Langerhans' cells were found in all cases in a predominantly basal localization. The number of OKT6-positive Langerhans' cells and the development of their dendritic processes gradually increased with age. Dermal dendritic cells were present as well. Both HLA-DR-positive and Leu-10-positive dermal dendritic cells were found in the superficial and deep dermis, often in a perivascular distribution. The OKT6-positive dermal dendritic cells were few in number and occurred only in the upper dermis.

Abdomen↗
PubMed1987

Interrupted right aortic arch in DiGeorge syndrome.

The clinical and necropsy findings in four cases of interrupted right aortic arch and right descending aorta associated with DiGeorge syndrome (congenital absence or hypoplasia of the thymus and parathyroids) are described. All patients had a mirror image of type B interruption, namely a right aortic arch with reversed branching pattern and an interruption between the right common carotid and right subclavian artery. In two patients there was a doubly committed subarterial ventricular septal defect and in the two other patients there was a perimembranous septal defect. Three patients had a bicuspid aortic valve. In a consecutive series of 185 necropsies in infants and children with congenital heart disease there were no cases of interrupted right aortic arch that were not associated with DiGeorge syndrome. These observations and previous reports indicate that the concurrence of these two rare conditions is more than fortuitous. In patients with an interrupted aortic arch the clinician should be aware of the common association with DiGeorge syndrome. If the interruption is associated with a right-sided descending aorta it is highly probable that the patient has DiGeorge syndrome.

Abnormalities, Multiple↗
PubMed1987

The Roberts tetraphocomelia syndrome: identical limb defects in two siblings.

In this report we describe two siblings; a female newborn who died shortly after birth, and a prenatally diagnosed female fetus with an identical type of severe, symmetrical tetraphocomelia. Internal malformation, cleft lip/cleft palate and ocular anomalies were absent in both. Premature centromere separation was not observed. On the basis of these findings the nosology of the tetraphocomelia syndromes (Roberts syndrome and the SC phocomelia/pseudothalidomide syndrome) is briefly discussed.

Abnormalities, Multiple↗
PubMed1986

Papillary adenocarcinoma of the prostatic urethra.

Three cases of papillary carcinoma of the prostate (also called endometrial adenocarcinoma of the prostate; endometrioid carcinoma) were studied for prostate-specific antigen in order to determine their origin and histogenesis. All 3 cases were prostate-specific antigen positive. Two patients were treated with hormonal therapy, 1 with radiotherapy.

Adenocarcinoma↗