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At least 883 records · Page 49Linked to original sources
PubMed1988

Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred.

Five members of a four-generation Mauritian family with ectrodactyly (split-hand/split-foot deformity) and ectodermal dysplasia but without clefting of the lip or palate have been investigated. The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. The ectodermal dysplasia manifested as hypotrichosis and abnormal dentition. Distinction is drawn between this autosomal dominant condition and the classical EEC syndrome; independent syndromic status is proposed.

Child, Preschool↗
PubMed1994

Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome.

Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome.

Abnormalities, Multiple↗
PubMed1996

Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome.

We describe a girl with midline defects and distal limb anomalies, who had a supernumerary der(22) syndrome. The presence of some anomalies identifying the midline defects, led us to review all patients reported up to now, with interesting results. We point out the particular finding of midline defects in CNS only, in patients studied by autopsy or neuroradiologic imaging.

Abnormalities, Multiple↗
PubMed1996

Keipert syndrome in two brothers from Turkey.

Two brothers, 17 and 21 years of age, with depressed nasal bridge, prominent frontal bones, hypoplastic maxilla, mild sensorineural hearing loss, broad terminal phalanges and mild pulmonary stenosis are presented. These findings are similar to those of the syndrome described by Keipert et al. in 1973. To the best of our knowledge, this is only the second report of this syndrome.

Abnormalities, Multiple↗
PubMed1996

Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome.

In this report we describe a male patient with the interesting combination of a large congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Follow-up data from birth up to the age of 18 years revealed positive evolution with low to normal intelligence. The findings in the present patient, i.e. an Adams-Oliver syndrome associated with a severe neurological deficit, are best explained as resulting from interruption of the early embryonic blood supply.

Abnormalities, Multiple↗
PubMed1994

Hydrocephalus ex vacuo and clasp thumb deformity due to congenital cytomegalovirus infection.

A case of congenital hydrocephalus in a male infant with flexion deformity of the thumbs and great toes is reported. A maternal uncle had undefined intellectual impairment and X-linked hydrocephalus was considered among the differential diagnoses. However, this diagnosis was considered unlikely as the pyramids were preserved at autopsy. In addition, postmortem histopathology and viral culture established cytomegalovirus (CMV) infection as the underlying cause of the hydrocephalus. Although CMV infection is a well recognized cause of congenital hydrocephalus, the associated flexion deformities of the thumbs and great toes have not been previously described and may reflect injury to the corticospinal tracts.

Adult↗
PubMed1993

Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q.

A patient with partial trisomy for the distal segment of the long arm of chromosome 5 (q35.1-->qter) with partial 18q monosomy is presented. The mother of the patient was phenotypically normal and was proved to be a carrier of a reciprocal translocation of the long arm of chromosomes 5 and 18 46,XX,t(5;18)(q35.1;q23). The patient shows mild mental retardation, short stature, mild obesity, dysmorphic face, eczema, minor malformations of the extremities, and bilateral intracranial calcification in the basal ganglia. Most of the clinical manifestations of the patient are compatible with the previously reported clinical features of partial trisomy of the distal segment of 5q. However, the calcification of bilateral basal ganglia has not been reported for this chromosomal anomaly.

Abnormalities, Multiple↗
PubMed1975

Genetics of acheiropodia ("The handless and footless families of Brazil"): IV. Sex ratio, consanguinity and birth order.

The sex ratio among acheiropods is shown to be not significantly different from the sex ratio among their normal sibs, as well as among other segments of the family (parental sibships, cousin sibships and other sibships). The frequency of consanguineous marriages among the parents of acheiropods (82%) is one of the highest thus far reported among parents of individuals affected with rare autosomal recessive anomalies or diseases. No evidence was found of any overall positive or negative birth order effect on the incidence of acheiropodia. These results further strengthen the hypothesis of a simple genetic mechanism for acheiropodia, namely autosomal recessive inheritance, without any detectable complication as regards sex ratio, consanguinity and birth order. Although the family size from heterozygous parents (producing at least one acheiropod) was twice as large as family sizes in other segments of the families (8 against 4), we have at present no evidence to support either heterozygous advantage or reproductive compensation.

Birth Order↗
PubMed1998

Hand function in children with cerebral palsy after upper-limb tendon transfer and muscle release.

Thirty-two children with hand dysfunction due to cerebral palsy were examined before tendon transfer and muscle release, and 9 months postoperatively. All children improved their performance regardless of the degree of impaired hand function. The main advantage of surgery was a more functional position of the hand with increased wrist extension and forearm supination. There were also increased functionality of handgrips, grip strength, and dexterity. Impaired sensibility before surgery did not influence the outcome. Individual goals were set preoperatively. Individual functional goals outlined before surgery were met by most children. Children identified as having mild impairments gained new functional skills related to everyday activity (self-care and leisure), while children with severely impaired hand function demonstrated enhanced grasping ability, as well as a better cosmetic appearance.

Adolescent↗
PubMed1997

Bilateral clinical anophthalmos.

We report on the risk factors, associations and outcome of 5 children with bilateral clinical anophthalmos. Our study showed no gestational, environmental or hereditary association but confirmed strong association with multiple systemic abnormalities.

Abnormalities, Multiple↗