Macrothrombocytopenia in velocardiofacial syndrome.
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Adolescent↗
Biomedical subjects
R Pallotta
Publications and source records attributed to R Pallotta.
The 'skipped generation' phenomenon in a family with renal agenesis.
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Abortion, Induced↗
A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.
A patient with microbrachycephaly, high forehead, long philtrum, thin upper lip, downturned corners of the mouth, low set ears with overlapping helix, fifth-finger clinodactyly, small hands and feet, bilateral transverse palmar crease, low total finger ridge count, hypotonia, severe growth and psychomotor delay, mild hypoplasia of corpus callosum, and Arnold-Chiari type 1 malformation is reported. The karyotype showed 46, XY, del(1)(q23q31.2). Coagulation factor V (F5, 1q23) and coagulation factor XIII (F13B, 1q31-q32.1) levels were normal. As expected, antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency.
Adolescent↗
Ocular findings in distal arthrogryposis.
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Abnormalities, Multiple↗
Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB.
We present a family affected with distal arthrogryposis type IIB (DA IIB) in three generations. The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum.
Adolescent↗
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or by molecular probes on apparently normal chromosomes (4 patients). One patient had normal chromosomes without a detectable molecular deletion within the WHS "critical region." In each deleted patient, the deletion was demonstrated to be terminal by fluorescence in situ hybridization (FISH). The proximal breakpoint of the rearrangement was established by prometaphase chromosome analysis in cases with a visible deletion. It was within the 4p16.1 band in six patients, apparently coincident with the distal half of this band in five patients. The extent of each of the four submicroscopic deletions was established by FISH analyses with a set of overlapping cosmid clones spanning the 4p16.3 region. We found ample variations in both the size of the deletions and the position of the respective breakpoints. The precise definition of the cytogenetic defect permitted an analysis of the genotype-phenotype correlations in WHS, leading to the proposal of a set of minimal diagnostic criteria, which in turn may facilitate the selection of critical patients in the search for the gene(s) responsible for this disorder. We observed that genotype-phenotype correlations in WHS mostly depend on the size of the deletion, a deletion of <3.5 Mb resulting in a mild phenotype, in which malformations are absent. The absence of a detectable molecular deletion is still consistent with a WHS diagnosis. Based on these observations a "minimal" WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia.
Abnormalities, Multiple↗
Neonatal suppurative parotitis: a study of five cases.
UNLABELLED: Suppurative parotitis is uncommon in newborns. During a 9-year study period, five cases of neonatal suppurative parotitis were detected in 3,624 hospital admissions. The relative risk of developing neonatal suppurative parotitis in admitted infants was 5.52 (0.62-49.35). Staphylococcus aureus was the causative organism most commonly detected in the hospital-acquired cases. Antimicrobial therapy was effective in all cases; surgery was not required. CONCLUSION: Although neonatal suppurative parotitis is now uncommon in the newborn, it cannot be considered a "vanishing disease".
Cross Infection↗
Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature.
The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.
Achondroplasia↗
Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family.
We report on the occurrence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and Maumenee, 1984: Ophthalmol Pediatr Genet 4:59-66]. The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance.
Adult↗
Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications.
We describe a mother and her twin daughters affected with severe hypodontia of the permanent teeth, precocious calcification of the choroid plexus, and minor digital anomalies. The presence of inner telecanthus, broad and flattened nasal bridge, mild ocular proptosis, small nose with anteverted nostrils, and slight microretrognathia gives them an unusual appearance. All three affected persons are of normal intelligence.
Abnormalities, Multiple↗
Hypoglycemia in childhood: a clinical approach.
A child with hypoglycemia presents very frequently an urgent diagnostic and therapeutic challenge. The main causes of hypoglycemia and the clinical approach and laboratory investigations are reviewed underlining that the relationship between the hypoglycemic event and the last meal can aid in diagnosis, in particular for metabolic diseases. Only a correct and precise diagnosis can allow adequate and appropriate treatment and prevention of future hypoglycemic events.
Child↗
Lipids and lipoproteins in diabetic adolescents and young adults with retinopathy.
PURPOSE: To compare serum concentrations of lipoproteins and apolipoproteins in insulin-dependent diabetic patients with and without retinopathy. METHODS: A cross-sectional study was performed on 42 diabetic adolescents and young adults with different degrees of retinopathy. The mean +/- SD age of the patient was 21.1 years (range 12.8-27.9 years); their mean duration of diabetes was 12.3 years (range 7.1-19.9 years). Their glycosylated haemoglobin (HbA1c) and fructosamine were respectively 10.2% (8.2-15.4%) and 280.8 mumol/l (202.1-458.5 mumol/l). Forty-two diabetics without retinopathy similar to the study population as regards age, sex, duration of disease, HbA1c and microalbuminuria values, and 42 healthy subjects, served as controls. RESULTS: Serum lipid and lipoprotein concentrations were not different from those of healthy controls in patients either with or without retinopathy. The diabetic patients were subdivided in two groups according to the degree of their retinopathy: background and preproliferative/proliferative retinopathy. Patients with preproliferative/proliferative retinopathy were found to have significantly higher lipoprotein (a) values than the other group (background, 73.3 IU/l; preproliferative/proliferative, 205.9 IU/l; p < 0.001). CONCLUSION: The increase in lipoprotein (a) levels might play a role in the development of severe retinopathy.
Adolescent↗
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↗
Further delineation of 7p trisomy. Case report and review of literature.
The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This entity, although several lengths of duplicated fragment or mosaicism, is characterized by high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. The phenotypic pattern seems to be similar in all the patients, although the association of anomalies appears to be correlated to the extension of the duplicated fragments.
Abnormalities, Multiple↗
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.
Abnormalities, Multiple↗
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.
Abnormalities, Multiple↗
Dermatoglyphics in von Recklinghausen neurofibromatosis.
We studied dermatoglyphic traits in 27 patients (12 males and 15 females) with neurofibromatosis type I (NF-1) to verify which characteristics may be considered typical of this disorder. The frequency of digital central pockets in the patients was significantly greater than in control individuals (P less than .005), but when we evaluated the sexes separately, the difference was significant only among females (P less than .002). The distribution of central pockets on the various fingers was significantly different in affected females, compared with normal controls, but only on fingers II (P less than .05), IV (P .002), and V (P less than .05). The quantitative finger tip pattern values and the total finger ridge count (TFRC) were always higher in the patients, as well as was the a-b ridge count. The latter was significantly increased only on the right hand in females (P less than .01). Among the patients, the atd angle values were increased on both hands of females and on the right hand in males, whereas both the ulnar index A'-d and the a-t' ridge counts were diminished. The frequency of high endings (5' or 5") of line A was increased in NF-1 patients on both hands. Like in previous investigations, our patients showed an increased number of secondary creases, limited to II degree according to Vormittag et al. [1986] (P less than .048). Our results only partially confirmed prior data. Therefore, we think that there is no typical dermatoglyphic pattern in NF-1 and that this parameter is not a diagnostic indicator in this disorder.
Adolescent↗
Enamel defects in a case of Menkes' syndrome.
A patient affected by Menkes' syndrome presents some dental abnormalities, such as enamel defects, delayed eruption and a biconically shaped incisor. The deficient action of a cuproenzyme in this syndrome leads us to hypothesize an explanation of defective enamel formation.
Brain Diseases, Metabolic↗