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M C Digilio

Publications and source records attributed to M C Digilio.

At least 73 records · Page 4Linked to original sources
PubMed1997

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but a correlation between the single descriptions has never been noted. CTHDs are included among the cardiac malformations characteristically associated with the group of syndromes caused by the microdeletion of chromosome 22q11, but no detectable hemizygosity has been found in our family. An autosomal recessive gene seems to be involved in syndromic patients with the combination of CTHD and microphthalmia. The map location of this gene is at present unknown, but autosomal recessive inheritance must be considered in genetic counselling of families with children presenting with this malformation complex.

Abnormalities, Multiple↗
PubMed1997

Radial aplasia and chromosome 22q11 deletion.

We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our knowledge, the present case is the first report of radial aplasia in del22q11. This observation further supports and extends the clinical variability of del22q11.

Abnormalities, Multiple↗
PubMed1997

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

Isolated tetralogy of Fallot (TF) has a multifactorial mode of inheritance in most cases, and recurrence risk rates of 2.5-3% have been attributed to first degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected. Microdeletion 22q11 (del(22q11)) can cause TF in the setting of DiGeorge and velocardiofacial syndromes, and has also been related to familial conotruncal cardiac defects. Empirical risk figures in families after exclusion of del(22q11) have never been calculated. We have investigated the overall occurrence of congenital heart defect (CHD) in relatives of 102 patients with isolated non-syndromic TF previously screened for del(22q11). Our results show that the frequency of CHD is 3% in sibs, 0.5% in parents, 0.3% in grandparents, 0.2% in uncles or aunts, and 0.6% in first cousins. The recurrence risk rate for sibs in our series is the same as that previously estimated, indicating that after exclusion of patients with del(22q11) genetic counselling to patients with isolated TF should not be modified. A high concordance rate among our affected sibs has been documented. Gene(s) different from those located on chromosome 22q11 must be involved in causing familial aggregation of non-syndromic TF in these cases.

Adolescent↗
PubMed1996

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.

To detect in children with tetralogy of Fallot (ToF) the prevalence of associated cardiac anomalies in syndromic and isolated cases, the additional cardiac defects of 150 consecutive patients with ToF (102 isolated and 48 syndromic cases) were evaluated by review of echocardiographic, angiocardiographic, and surgical reports. Syndromic patients were classified into groups with branchial arch defects, Down syndrome, and other genetic conditions. ToF is significantly associated with additional cardiac malformations in patients with branchial arch (11 of 21, p <0.01) and Down (10 of 20, p <0.0001) syndromes. The subarterial ventricular septal defect with deficiency of the infundibular septum (4 of 21, p <0.01) and the right aortic arch (6 of 21, p <0.05) were prevalent in patients with branchial arch syndromes, whereas atrioventricular canal (10 of 20, p <0.0001) was associated with ToF in patients with Down syndrome. Peculiar anatomic cardiac patterns are present in children with ToF and may alert the cardiologist to look at additional cardiac anomalies. Moreover, the presence of some associated cardiac anomalies may suggest careful clinical evaluation for genetic syndromes.

Adolescent↗
PubMed1996

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

We report on a patient with a constellation of anomalies including hamartomas of the tongue, polysyndactyly, and atrioventricular canal. A similar association has been previously described by Orstavik et al in two sibs. The clinical spectrum of the oralfacial-digital syndrome (OFDS) type II includes all these features. In particular, congenital heart defect, mainly atrioventricular canal, has been described in a few cases. It has been previously suggested that these latter patients may be affected by a variant of OFDS type II. We propose to distinguish this orocardiodigital variant and point out the association of the syndrome with atrioventricular canal.

Adult↗
PubMed1995

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.

Atrioventricular canal defects (AVCD) constitute the predominant congenital heart defect in Down syndrome. For this reason, a candidate gene involved in atrioventricular canal development was previously searched and excluded in dominant pedigrees of AVCD, using linkage analysis of polymorphisms from chromosome 21. Because of the striking association between 8p deletion and AVCD, a search for an AVCD gene was carried out in two pedigrees of individuals with autosomal dominant AVCD using a set of DNA markers of the 8pter-->q12 region. These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two-point lod scores were significantly negative for all markers at penetrance levels of 90% and 50%. Multipoint analysis excluded the region covered by the markers LPL-D8S262 and 30 cM to either side of this area. This result corroborates heterogeneity of this heart defect and indicates that the genetic basis of familial AVCD is different from AVCD associated to either trisomy 21 or 8p deletion.

Child↗
PubMed1995

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (del22q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of del22q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated TF, using the HD7k probe, which detects hemizygosity for the D22S134 locus. Del22q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had del22q11. Our experience suggests that children with TF and del22q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects.

Adolescent↗
PubMed1995

Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction.

UNLABELLED: Among 41 consecutive children with classic Noonan syndrome, 27 patients (66%) presented cardiac anomalies. Eight patients (19.5%) had a congenital anomaly of the mitral valve consisting of 5 with partial atrioventricular canal defect and 3 with anomalous insertion of the mitral valve on the ventricular septum. Five patients (12%) presented with a significant left ventricular outflow tract obstruction caused by the anterior leaflet of the mitral valve: two cases with atrioventricular canal and three cases with isolated anomalous insertion of the mitral valve. Echocardiography is the best tool for the diagnosis. Cardiac defects of patients with Noonan syndrome may be explained on the basis of anomalies of the extracellular matrix involving cardiac valves including the mitral valve. CONCLUSION: In children with Noonan syndrome and left ventricular hypertrophy a careful echocardiographic assessment of the mitral valve should reveal those in whom the left ventricular outflow tract obstruction is anatomical in nature.

Adolescent↗
PubMed1995

Sporadic trichodental dysplasia with microcephaly and mental retardation.

Trichodental syndrome is a rare autosomal dominant ectodermal dysplasia. Hair and dental anomalies have been found in different combinations in most affected persons in three families. The features of trichodental syndrome were observed in a young female in which sparse, fine, lustreless and slow growing hairs were associated with bigeminismus of inferior lateral incisors. Ultrastructural hair analysis showed consistent variation in contour of the shaft and reduced to absent cuticular scale. Distinguishing features in this patient were microcephaly and mild mental retardation.

Child, Preschool↗
PubMed1995

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

We present a female patient with the oral-facial-digital syndrome type IV. Our report, the tenth in the literature, describes the typical manifestations of the syndrome, combined with malformations and deformations which have not always been described in the previously reported cases. They include cerebral and renal anomalies, anal atresia and dislocation of elbows and knees.

Abnormalities, Multiple↗