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Biomedical subjects

P Moerman

Publications and source records attributed to P Moerman.

At least 55 records · Page 3Linked to original sources
PubMed1998

Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene.

In this report we present evidence that Marden-Walker syndrome and isolated distal arthrogryposis may be variable manifestations of the same entity. We describe the clinical and pathological findings in two affected siblings, the first two children of normal, non-consanguineous parents. The first child, a female, presented a typical Marden-Walker syndrome with Dandy Walker type CNS malformation, corpus callosum hypoplasia and enlarged ventricles. In the second pregnancy, echographic examination revealed joint contractures of the hands and feet. Fetopathological examination revealed a normocephalic male fetus with severe distal arthrogryposis. There was no facial dysmorphism and pathological examination of the brain, the spinal cord and muscle was normal.

Abnormalities, Multiple↗
PubMed1998

Anaplastic nodules in an ovarian mucinous tumor. Case report and literature review.

The case of a 38-year-old woman with an ovarian mucinous cyst that contained solid nodules of anaplastic carcinoma is described. Hitherto, only 17 cases of this aggressive type of ovarian tumor have been reported. The patient underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy and a para-aortic and pelvic lymphadenectomy. The tumor was classified as FIGO Stage Ic. On flow cytometry the tumor was DNA diploid. Also, on image analysis the regions with well- differentiated carcinoma and the regions with anaplastic nodules were DNA diploid. No adjuvant treatment was given. There is no evidence of disease 30 months after diagnosis.

Adenocarcinoma, Mucinous↗
PubMed1998

Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.

Prenatal diagnosis of the DiGeorge/velo-cardio-facial syndrome has become possible since it was recognized that this syndrome is caused by a submicroscopic deletion in chromosome 22q11. In a sporadic patient presenting a conotruncal heart defect and polyhydramnios, the del 22q11 was made prenatally by fluorescence in situ hybridization (FISH) after amniocentesis. Seven additional patients with a del 22q11 were identified, who presented during pregnancy with polyhydramnios. In one of them, unilateral hydronephrosis was present. These findings further add to a growing list of clinical presentations of a del 22q11 and suggest that in patients with polyhydramnios and a conotruncal heart defect or uropathy, fetal karyotyping should be complemented by FISH for a del 22q11.

Amniocentesis↗
PubMed1998

Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.

We present a 22-week male fetus with cleft lip and palate, lobulated tongue, talipes equinovarus, and polysyndactyly. In addition there was skeletal dysplasia with micromelia and short ribs. Autopsy revealed a cardiac anomaly (perimembranous VSD), very incomplete lobation of the lungs, mild congenital hepatic fibrosis, and segmental renal cystic dysplasia. Brain anomalies included internal hydrocephalus, olfactory aplasia, and agenesis of the corpus callosum. This constellation of multiple congenital anomalies is consistent with the oral-facial-digital syndrome (OFDS) type IV. OFDS type IV may be a heterogeneous condition. Our pathological findings confirm that at least some of these cases a transitional phenotype between OFDS type II (Mohr syndrome) and short rib polydactyly syndrome type II (Majewski syndrome).

Diagnosis, Differential↗
PubMed1998

Diaphragmatic hernia in the Coffin-Siris syndrome.

At 32 weeks of gestation, delivery of a female fetus was induced because of severe malformations seen on ultrasonogram: congenital diaphragmatic hernia and cerebellar hypoplasia. The diagnosis of Coffin-Siris syndrome was based on the physical examination: coarse face with low-set ears, low nuchal hairline, scalp hypotrichosis and hypoplasia of the nails of fingers and toes with absence of the right fifth fingernail. Autopsy confirmed the prenatally diagnosed major associated abnormalities: hypoplasia of the cerebellum and congenital diaphragmatic hernia. Various clinical entities are included in the differential diagnosis.

Abnormalities, Multiple↗
PubMed1998

Lethal hypophosphatasia, spur type: case report and fetopathological study.

Lethal hypophosphatasia, spur type: case report and fetopathological study: Hypophosphatasia (HP) is characterised by severe undermineralisation of the skeleton owing to deficiency of tissue nonspecific alkaline phosphatase. Clinically a perinatal, infantile, childhood and adult type is distinguished. Clinical signs in the perinatal type of HP show considerable overlap with other skeletal dysplasias such as osteogenesis imperfecta type IIA and type IIC, and achondrogenesis type IA. If present, "spurs" of the limbs are diagnostic for HP. We present a prenatally diagnosed case of HP and discuss the differential diagnosis based on clinical, radiological and pathological findings. Our findings indicate that two types of spurs can be distinguished in hypophosphatasia: midshaft type and joint type.

Adult↗
PubMed1998

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy.

We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.

Adult↗
PubMed1997

Idiopathic granulomatous mastitis.

A case of idiopathic granulomatous mastitis mimicking breast carcinoma clinically and radiographically is reported with mammography, sonography and MR images.

Adult↗
PubMed1997

Fetal akinesia sequence caused by nemaline myopathy.

Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients nemaline myopathy could be demonstrated with histology. The ninth patient presented the same phenotype as his 4 affected siblings in whom the nemaline myopathy could be histologically proven. Seven of the patients belonged to 2 families; the other 2 patients were isolated cases. In one fetal case nemaline myopathy was documented at week 22 of gestation. These observations demonstrate that nemaline myopathy can cause the fetal akinesia sequence, with onset of first symptoms as early as the beginning of the second trimester of pregnancy.

Abnormalities, Multiple↗
PubMed1997

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.

A submicroscopic deletion of chromosome 22q11 was demonstrated in three triplets and in their father. Two children had the typical DiGeorge sequence with at least three of the four cardinal features: conotruncal heart disease, hypoplastic thymus and typical facial features. Hypoparathyroidism was present in one of them. The third child had features of both DiGeorge and velo-cardio-facial syndrome (VCFS). The father presented with features compatible with VCFS. This observation further illustrates the wide variability in expression of a submicroscopic deletion of 22q11, even within one family.

Abnormalities, Multiple↗