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Biomedical subjects

V Belengeanu

Publications and source records attributed to V Belengeanu.

10 recordsLinked to original sources
PubMed2005

Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?

Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kabuki syndrome, but no mental retardation, short stature and visceral abnormalities. The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder.

Abnormalities, Multiple↗
PubMed1997

[Familial congenital aniridia].

We have studied a family that has been presenting cases of congenital aniridia for three generations. A specific trace found in this family is the varied expression of the pathological gene as some members showed bilateral congenital aniridia, others showed unilateral aniridia with coloboma or just bilateral coloboma aspect. Aniridia can be found either as a "de novo" mutation in a family or as a continuous transmission between generations reproducing the dominant autosomal model. The ocular manifestations of this anomaly include: defects of the cornea, glaucoma, lens subluxations, hypoplasia of the fovea, nystagmus.

Abnormalities, Multiple↗
PubMed1993

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).

Abnormalities, Multiple↗
PubMedDate not supplied

A 22-year old female with the 9p deletion syndrome.

A 22-year old female patient with psycho-motor retardation, statural hypotrophy and clinical picture characteristic of the 9p deletion syndrome, i.e., trigonocephalia (corrected surgically), epicanthus, hypertelorism, long filtrum, micrognathia, low inserted and malformed ears, filiform fingers, is presented.

Abnormalities, Multiple↗
PubMedDate not supplied

Leprechaunism: report of two cases and review.

Two new cases of leprechaunism are reported, one of which from consanguinous parents. Both cases show the clinical picture characteristic of this syndrome: severe pre- and postnatal growth failure, psychic backwardness, lack of adipose tissue, cutis laxa; elf-like face, large ears, globular eyes, hypertelorism, micrognathia and various degrees of external genitalia hypertrophy. Endocrinologically, one of the patients shows the syndrome of low T3. The role of the endocrine alterations in the etiology of the syndrome is discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

Extra-small marker chromosomes in couples with reproductive failure.

From a pre-selected series of couples with reproductive failure, the authors are presenting 4 couples in which one of the members has an extra marker chromosome in mosaic with a normal line. The relationship between the caryotype and the reproductive failure of these couples is discussed.

Chromosome Aberrations↗
PubMedDate not supplied

Trisomy 8 syndrome. A report of 2 cases.

Two new cases of trisomy 8 mosaicism are reported. Both patients present the "evocative facial traits" of trisomy 8; large square face, everted lower lip, deep skin furrows on the palms and soles, joint rigidity and psychomotor retardation. The whole literature on trisomy 8 is reviewed.

Abnormalities, Multiple↗
PubMedDate not supplied

47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies.

A 3-year old girl with 47,XXX/48,XXXX caryotype is presented. She suffers from psychomotor retardation, dolichocephaly, malformed ears, "a false air of trisomy 21", malformation of the legs, obesity. The authors discuss briefly the available data on the triplo and tetra X phenotype and syndromes.

Abnormalities, Multiple↗
PubMedDate not supplied

Partial 9p monosomy--a case with hypothyroidism.

A 4-yr-old boy with psycho-motor retardation, microcephaly, flat occipital, mongoloid slant, macrostomia with thickened lower lip and long filiform fingers is presented. Cytogenetically, the boy presents a "de novo" terminal 9p deletion. Complex endocrine exploration reveals the presence of hypothyroidism.

Abnormalities, Multiple↗