Associated anomalies in individuals with polydactyly.

An epidemiological analysis of the association of polydactyly with other congenital anomalies was performed in 5,927 consecutively born polydactyly cases. They were grouped into three categories: duplicated fifth digit, duplicated first digit, and rare polydactylies; also into isolated or associated groups, if other birth defects were or were not observed in the same infant. Associated cases were further subdivided into: combined, if the other defect was a limb defect; syndromic, if a non-limb defect constituted a recognized causal or pathogenetic entity; and MCA, if a non-limb defect did not constitute a recognized entity. In 14.6% of the 5,927 polydactyly cases studied, polydactyly was not the only congenital anomaly. This associated proportion was minimal for postaxial (11.8%), intermediate for preaxial-I (20.0%), and maximal for rare polydactyly (54.9%). Duplication of the fifth toe plus syndactyly of fourth and fifth toes, as well as other syndactylies adjacent to the duplicated digit is the most frequent type. Syndactyly of fourth and fifth toes was also combined with a duplicated fifth finger, suggesting the existence of an arrested or amputated in utero sixth toe. Polydactylies are rarely associated with other congenital anomalies except in recognizable syndromes. When syndromes are excluded, most of the significant positive associations disappear. Trisomy 13, Meckel, and Down syndrome explained 255 of the 338 syndromic polydactyly cases. Down syndrome is strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. The latter could not be explained by maternal age differences among Black and non-Black case sub-sets.

Prenatal diagnosis and long survival of Fryns' syndrome.

We report on a case of Fryns' syndrome diagnosed prenatally in a woman with no family history of this disorder. A computerized database was used for the differential diagnosis. Intensive perinatal care resulted in prolonged survival, which is unusual in individuals with Fryns' syndrome. This case provides further delineation of the developmental course in patients with this condition.

EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis.

A computer system for the assistance of syndrome diagnosis in dysmorphology (EL BUSCA) was developed, and used to test the mechanics of the diagnostic process. EL BUSCA has a reference file (REF) with 200 syndromes, expressed in 175 signals. Signals have a weight value resulting from the difference between the number of syndromes including that sign and the total number of syndromes in the REF. A mean signal weight was calculated for each syndrome. The system was tested with 200 published cases (CASES), representing 82 different syndromes. Each consultation (CONS) entered up to 15 patient signals. The system then selected syndromes having three or more of those signals. 'Present' (REF+CASE), 'Absent' (REF only), and 'Additional' (CASE only) signals, as well as the score given by the sum of the weights of 'present' signals, were displayed for each suggested diagnosis. A consultation was successful (positive answer) if the correct diagnosis appeared among the first 12 ranked. EL BUSCA gave a positive answer in 82% of the 200 test consultations. Linear regression, with ranking of the correct diagnosis among the answers as the dependent variable, was used for the analysis of the following results. For the REF, no relationship was found for either the number or the mean weight of the signals with the ranking of the correct diagnosis. For the CASES, there was a linear relationship between the number of signals of each consultation and the ranking of the correct diagnosis, indicating that the larger the number of signals consulted, the lower the ranking of the correct diagnosis. No effect was seen for the mean weight of consulted signals.(ABSTRACT TRUNCATED AT 250 WORDS)

Acrocallosal syndrome in a girl born to consanguineous parents.

The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.