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Biomedical subjects

Z Nazará

Publications and source records attributed to Z Nazará.

At least 19 recordsLinked to original sources
PubMed1997

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.

The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow-up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome.

Abnormalities, Multiple↗
PubMed1995

Christian's spondylo-digital syndrome: second familial case.

We studied a mother and daughter with skeletal dysplasia which was characterized clinically by proximal and distal flexion contractures in the phalanges, and by brachydactyly, clinodactyly and ulnar and radial subdislocations of the fingers. Radiologically, the 2nd metacarpal in the daughter was seen to be longer than the other metacarpals, with bone carpal fusion, and flexion contractures of the fingers in both hands. Thoraco-lumbar xyphorotoscoliosis and malformed vertebrae with dyssegmentation of L2-L3, T12 and L1 with cuneiform shape, asymmetry of the pelvic bones and exostotic lesions in the proximal third of the tibia and the distal third of the femur were also noted. The clinical and radiological characteristics were compatible with the syndrome described by Christian et al. in 1975 and called the second metatarsal syndrome. The purpose of this paper was to present a second corroborative familial case and to propose another name: Christian's spondylo-digital syndrome.

Adolescent↗
PubMed1990

Aneuploidies, chromosome aberrations and dominant gene mutations detected in 113,913 consecutive newborn children in Mexico.

Data on 113,913 liveborn children from a hospital in Guadalajara, Jalisco (Mexico), were analysed for birth defects (BD); mutation rates were calculated for sporadic aneuploidy, chromosome aberrations and dominant gene mutations. The results showed a general incidence of 13.92 BD cases per 1000 liveborns, of which 1.64% were chromosomal abnormalities, 1.50% were aneuploid, 0.14% were structural chromosome aberrations and 3.23% were dominant gene mutations. The mutation rates were 8.20 x 10(-4) chromosomal abnormalities, 7.5 x 10(-4) aneuploidies, 7.0 x 10(-5) chromosome aberrations and 1.61 x 10(-3) dominant gene mutations/gamete/generation, respectively. The lethality rate was 15.32% of the liveborns with BD. The described findings estimate the incidence of new human mutants detected at birth in a sample of the Mexican population. They show that the rate for some aneuploidies are similar to those found in other populations previously reported in the literature but the rates of chromosome and dominant gene mutations were different.

Aneuploidy↗
PubMed1989

Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition.

A 4 9/12-year-old boy with achalasia microcephaly syndrome (AMS), born to a consanguineous couple, is reported. Comparative analysis of this case and the patients previously described in a Mexican family supports the notion that the syndrome is a distinct autosomal recessive condition. It is interesting that the area of origin and ethnicity of both the present and the previously reported cases is northwest Mexico.

Abnormalities, Multiple↗
PubMed1989

De novo dir dup (1)(q3200----4200) in an adult. Further delineation of the pure 1q trisomy syndrome.

An adult male patient with a "de novo" pure trisomy 1q32---q42 was studied. Literature review of 33 cases with 1q trisomy allowed singling out a distinctive phenotype by eliminating clinical features of concomitant aneusomies. It is concluded, however, that the clinical pictures of the "pure" and "impure" 1q trisomies are similar and that the critical segment includes bands q32 and q41.

Adult↗
PubMed1986

Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome.

A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.

Adolescent↗
PubMed1985

Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.

A 14-month-old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance.

Blindness↗
PubMed1985

Guadalajara camptodactyly syndrome type II.

Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygosity from an autosomal recessive gene.

Abnormalities, Multiple↗
PubMed1985

Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.

A 16 year-old boy with monosomy 20p was studied. The clinical and radiological data compared with those from the three previously reported cases, permit the delineation of a distinct syndrome of low birthweight, flat face, low nasal bridge, long philtrum, short neck, small overfolded ears, chest deformity, kyphoscoliosis, congenital heart defect, hypoplastic or absent ribs and rachischisis (butterfly-shaped vertebral bodies). The critical chromosome segment causing this syndrome is tentatively defined as 20p13.

Abnormalities, Multiple↗
PubMed1983

A probable monogenic form of polyostotic fibrous dysplasia.

A 37 year-old female patient with polyostotic fibrous dysplasia (PFD) is described. She presented the typical "café au lait" spots and severe bone involvement including a maxillary osteosarcoma. The father, four sibs, two nephews, two paternal aunts and two paternal first cousins were clinically examined, and seven of them also radiologically evaluated. "Café au lait" spots were found in the father, three sibs, one nephew, one aunt and one first cousin. Although no definite PFD bone lesions, mild radiological abnormalities were found in the father, three sibs and one nephew. These findings were interpreted as the variable expression of a pleiotropic gene. The present observation and three previous familial cases of this entity strongly suggest the existence of a form of PFD determined by an autosomal dominant gene.

Adolescent↗
PubMed1982

Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies.

The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.

Abnormalities, Multiple↗