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Biomedical subjects

A Verloes

Publications and source records attributed to A Verloes.

At least 145 records · Page 8Linked to original sources
PubMed1990

Proximal phocomelia and radial ray aplasia in fetal valproic syndrome.

We describe a child with multiple congenital anomalies born to a women treated with valproic acid (1000 mg/day) for post traumatic epilepsy. Defects included the typical dysmorphism of the "fetal valproic syndrome", bilateral radial ray aplasia, unilateral proximal phocomelia of the upper limb, kidney hypoplasia and brain atrophy. A direct teratogenic effect of valproic acid is suspected on an experimental basis, and validated by two previous reports of radial defects after valproic acid exposure.

Abnormalities, Drug-Induced↗
PubMed1990

Cutaneous presentation of the cardio-facio-cutaneous syndrome.

We present the clinical and histologic features of the cutaneous lesions in a girl with cardio-facio-cutaneous syndrome. Marked tortuosity with hyperkeratosis of the sweat ducts and dystrophy of the hair shafts appear to be the cutaneous hallmarks of this syndrome.

Body Height↗
PubMed1990

Trisomy 20q. A new case and further phenotypic delineation.

The present report concerns the clinical and cytogenetic findings in a liveborn girl with trisomy for the long arm of chromosome 20. She was the unbalanced product of a maternal t(18;20)(q23.2;q13.1) translocation. Our case is compared to the 3 previous reports of trisomy 20q associated with telomeric translocation. Adenosine deaminase dosage falls in the normal range and confirms the exclusion of the ADA locus from the region extending distally to 20q13.1.

Chromosomes, Human, Pair 20↗
PubMed1990

Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.

Among children with recessive metaphyseal dysplasia involving the knees and extremities, two types can be distinguished. In true cartilage-hair hypoplasia, as described by McKusick, many patients show clinical hair involvement and variable immunodeficiency. We present a series of six patients with the same radiological changes, but without apparent hypotrichosis. We suggest that they should be considered as having a variant form of cartilage-hair hypoplasia, with a clinically distinct phenotype, which could be as common as 'true' cartilage-hair hypoplasia among non-Amish populations. Microscopic examination of the hair may show reduction in the diameter of the hair shaft. This form of metaphyseal dysplasia may result from allelic heterogeneity.

Bone Diseases, Developmental↗
PubMed1990

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

We report a father and son affected by a hitherto unpublished bone dysplasia with moderately severe dwarfism. On initial radiographs, thickening of the diaphyses of the long bones was striking. The small bones of the extremities were almost unaffected. With age, the metaphyseal deformation became more prominent. The epiphyses became irregular and their growth was delayed (particularly the femoral heads). The femoral neck showed an unusual 'lip' on the inner edge. Later, the stubby appearance of the long bones faded and, in adulthood, only enlarged metaphyses and deformed femoral necks persisted. The vertebrae showed moderate deformation with irregular flattening, and narrowing of the spinal canal with a shortened interpedicular distance. The eye defects consisted of high grade myopia, microspherophakia, lens coloboma, lens luxation, and retinal detachment. The name 'microspherophakia-metaphyseal dysplasia' is suggested for this probably autosomal dominant bone dysplasia.

Adult↗
PubMed1990

Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?

We report a clinicopathological observation concerning a man and his son affected by the same disease. The main cutaneous lesions included poikiloderma congenitale and generalized alopecia respecting the pubic area. These anomalies were associated with cleft palate and Robin sequence in the boy. The main histological changes consisted in a marked atrophy of hairs with persistence of sebaceous glands. In sun-exposed areas, we found colloid bodies, melanophages and hyperplasia of the elastic tissue network. Those features resembled those of the Rothmund-Thomson syndrome, but the phenotype and the apparent dominant mode of inheritance exclude this possibility. A new genodermatosis, related with, but distinct from the Rothmund-Thomson syndrome is suspected, for which the acronym PARC syndrome is proposed.

Alopecia↗
PubMed1990

Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.

The authors report a girl with short stature, goniodysgenesis, bilateral iridochorio-retinal coloboma, associated with facial and acral anomalies, and borderline intelligence. Anterior chamber defect and face dysmorphism are in accordance with the diagnosis of Rieger syndrome. Some features are reminiscent of the CHARGE association. Coloboma, abnormal ears, grooved palate, elbow pronosupination and hand bones anomalies are related to the Abruzzo-Erikson syndrome. The authors postulate that their propositus may represent a new occurrence of the latter syndrome, and they propose to widen the actual definition of Abruzzo-Erikson syndrome to the association of goniodysgenesis, coloboma, abnormal ears and upper limb anomalies.

Abnormalities, Multiple↗
PubMed1990

Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?

We report two sibs with an undescribed MCA/MR syndrome. Both had a 46,XY chromosome constitution. The first patient is profoundly mentally retarded. Clinical features include short stature, coarse face, deep set eyes, microphthalmia, large ears, gynecoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Müllerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired. She had microphthalmia and large ears, and was short. A complete uterus with tubae and a single intraabdominal gonad with testicular organization were removed during infancy. Those anomalies do not fit any previously reported syndrome, although the general aspect of the propositus clearly resembles Borjeson-Forssman-Lehmann syndrome. Inheritance could be either autosomal recessive or X-linked.

Abnormalities, Multiple↗
PubMed1989

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

Three children are described from two sibships. They share infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate mental retardation. One of them had a kidney biopsy that showed mild interstitial fibrosis and amyloid deposit, but had no functional impairment. Another suffered moderate proximal tubular acidosis. Two children had unilateral or bilateral choroidal coloboma. This pattern of defects is consistent with a syndrome previously reported in two other sibships. The acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.

Adolescent↗
PubMed1989

BBBG syndrome or Opitz syndrome: new family.

We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.

Abnormalities, Multiple↗
PubMed1989

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery.

A 46,XX;47,XX,+9;47,XX,+?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p less than 0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.

Adult↗
PubMed1989

3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).

We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay. Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformations (Dandy-Walker cyst or vermis aplasia). We propose 3C syndrome as an easy acronym for this Cranio-Cerebello-Cardiac dysplasia.

Abnormalities, Multiple↗