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PubMed1986

Cryptophthalmos--syndactyly syndrome without cryptophthalmos.

Based on a personal observation and a review of the literature five cases with the so-called cryptophthalmos-syndactyly syndrome but without cryptophthalmos are presented. It appears that eye lesions are non-obligatory components of a pleomorphic condition which may be overlooked in the absence of the name-giving anomaly. The diagnosis of the cryptophthalmos-syndactyly syndrome must be considered in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos.

Abnormalities, Multiple↗
PubMed1986

Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis.

During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (less than 1%, 9.4% of the malformed). Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers. Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.

Abnormalities, Multiple↗
PubMed2006

Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome.

We report a case of successful renal transplantation in a child with Kabuki syndrome. We discuss the potential problems that might be encountered following kidney transplantation in children with Kabuki syndrome, and the management of these problems. We conclude that kidney transplantation is a feasible and appropriate treatment option for renal impairment in children with this syndrome.

Abnormalities, Multiple↗
PubMed1991

Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.

A child with the distinguishing characteristics of Weissenbacher-Zweymuller syndrome (WZS), a rare syndrome characterized by multiple skeletal and radiological abnormalities, dwarfism and developmental delays, was followed from birth to eight years. Follow-up showed that the radiographic anomalies eventually disappeared, and that height, motor, cognitive and language development returned to normal by eight years of age. The child's normal development at school age supports the theory that WZS is a dysmaturational, rather than dysplastic, syndrome. Diagnosis of the syndrome at birth is essential to ensure proper management of the child and counselling for the parents.

Abnormalities, Multiple↗
PubMed1986

Malformations in 10,000 consecutive births in Tunis.

Malformations were assessed in 10,000 consecutively born infants, dead or alive, at the Wassila Bourgiba Maternity Hospital in Tunis. The medical and social history including the rate of consanguinity was studied in the malformed group as well as in a control group of 229 infants. Three hundred and ninety-six infants were malformed; 248 had major malformations and 148 had minor ones. Thirteen per cent of the stillborn were malformed compared to 3.7% of the liveborn. The rates of most specific malformations were comparable to those in other studies but a relatively high rate of neural tube defects, 2.2/1000, can be noted. There is a significant overrepresentation of consanguinity (65%) in parents of non syndromic multi-malformed infants.

Abnormalities, Multiple↗
PubMed1993

What proportion of congenital abnormalities can be prevented?

OBJECTIVE: To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN: Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING: Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES: Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS: Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION: Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention.

Abnormalities, Multiple↗