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Biomedical subjects

A Verloes

Publications and source records attributed to A Verloes.

At least 127 records · Page 7Linked to original sources
PubMed1992

Dermatopathological aspects of restrictive dermopathy.

We present an immunopathological and electronmicroscopic study of the skin of two newborns affected by restrictive dermopathy. Evidence of abnormal maturation was found in the epidermis, cutaneous appendages, dermis, and hypodermis. Our observations confirm two previous descriptions. We emphasize some unreported data concerning the L1 antigen and Factor XIIIa in the skin. The L1 antigen is expressed in the interadnexal epidermis, but not in hair follicles. This is the reverse pattern compared with normal skin. Factor XIIIa is poorly expressed in dermal dendrocytes, which appear rare compared with controls. The multiple defects in maturation found in all cutaneous tissues suggest a qualitative or quantitative aberration in control mechanisms of tissue interactions.

Antigens, Surface↗
PubMed1992

Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?

A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan-Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden-Walker syndrome and Tel-Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme phenotypic variant of one of the above-mentioned syndromes.

Abnormalities, Multiple↗
PubMed1992

The orocraniodigital syndrome of Juberg and Hayward.

We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelorism, bowed and upward slanting eyebrows, thumb hypo/aplasia or proximal/distal thumb displacement, luxation of the radial head, elbow restriction, minor vertebral and rib anomalies, and horseshoe kidneys. New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal displacement, and ptosis. Recessive inheritance is likely, but autosomal dominant inheritance cannot yet be totally ruled out; therefore, genetic counselling of parents of an affected child and of affected patients themselves must be cautious.

Adolescent↗
PubMed1992

The Baller-Gerold syndrome.

A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands and feet, a midline facial angioma, and a scrotally positioned anus, all of which have been described in some of the 10 previously reported cases. Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted.

Abnormalities, Multiple↗
PubMed1992

Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child.

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of trisomy 18q- from the literature. The short trisomic segment 10pter-10p11 appears to affect more the phenotype than the trisomic segment 18qter-q11.

Abnormalities, Multiple↗
PubMed1991

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.

We report on 4 boys (including 2 maternally related first cousins) with a metaphyseal dysplasia of early onset and regressive evolution. Diagnosis is possible in the first months. Distal metaphyses of long bones are very irregular. Femoral necks seem hypoplastic and the edges of the metaphyses are almost vertical; femoral shaft is bowed. Those anomalies disappear after 2 years. The main manifestations are slight shortness and a light varus deformity of the lower limbs. Stature is not affected. The upper tibial growth cartilage, studied in one case, showed wide proliferative and hypertrophic zones with an unusual appearance of the last hypertrophic cells and an abnormal zone of cartilage calcification and resorption. The name "metaphyseal anadysplasia" is suggested for this early and regressive disorder. We are aware of other forms of regressive metaphyseal dysplasia which deserve further delineation. Therefore infants whose radiological changes of metaphyseal dysplasia do not fall into one of the well-defined types should be followed and prediction of the adult height should not be made on the basis of the findings on the initial examination.

Bone Diseases, Developmental↗
PubMed1991

Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.

We report the prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in a 24-week-old fetus. Echographic features included cystic hygroma, a complex heart defect with right ventricular hypoplasia, and a large placental chorioangioma. We suggest that chorioangioma may be associated with chromosomal imbalance and that systematic careful morphologic examination of the fetus and karyotyping of any pregnancy in which large chorioangioma is detected is advisable. Jugular lymphatic obstruction sequence has not been reported so far in association with 4p-syndrome.

Abnormalities, Multiple↗
PubMed1991

Metaphyseal acroscyphodysplasia.

Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely.

Bone and Bones↗
PubMed1991

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

Abnormalities, Multiple↗
PubMed1991

Branchial arch anomalies in trisomy 18.

The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial microsomia in a third one. Those cases point to the huge phenotypic variability of the trisomy 18.

Abnormalities, Multiple↗
PubMed1991

Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia?

The authors report a premature achondroplastic child with connatal neuroblastoma. Though this association could be coincidental, we suggest that a microdeletion inducing a contiguous gene syndrome involving the locus of neuroblastoma suppressor gene could be an alternative hypothesis. The gives a working hypothesis for the localization of the gene for achondroplasia.

Achondroplasia↗
PubMed1991

Enzyme immunoassay screening of alpha 1-antitrypsin in dried blood spots from 39 289 newborns.

We present a new, simple, and inexpensive sandwich-type double-antibody enzyme immunoassay for alpha 1-antitrypsin in dried blood collected on the fifth day post-partum. The method is very sensitive, having a detection limit of 2.84 fmol/well. Intra- and interassay CVs are 6.1% and 10.3%, respectively, for assay of 5-mm-diameter blood spots eluted into 7 mL of phosphate buffer. Since February 1984, we have used this method to systematically screen 39 289 consecutive births: 336 of these newborns (0.085%) showed values for alpha 1-antitrypsin below the cutoff value of 800 mg/L (50th percentile, 1470 mg/L). Of these 336 we were able to obtain 0.5 mL of serum from 161 for further testing. Four presented with a ZZ phenotype and 15 with a SZ phenotype, which indicates a deficiency in alpha 1-antitrypsin. Our data suggest a prevalence of 1.4% and 3.6% of Z and S alleles, respectively, in the French-speaking community of Belgium.

Enzyme-Linked Immunosorbent Assay↗
PubMed1990

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.

We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.

Abnormalities, Multiple↗