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Biomedical subjects

J Battin

Publications and source records attributed to J Battin.

At least 37 records · Page 2Linked to original sources
PubMed1994

Study of final height in Turner's syndrome: ethnic and genetic influences.

In understanding Turner's syndrome, spontaneous adult height is a prerequisite for an accurate assessment of the therapeutic efficiency of growth hormone treatment. The heights described in the literature reveal significant differences (136-147 cm). Our collaborative study pooled results from 16 pediatric endocrinology centers and obtained a large number of spontaneous adult heights (n = 216). The selective criteria were: chronological age (CA) > 18 years, bone age (BA) > 16 years, typical karyotype, no treatment with growth hormone or anabolic steroids. Mean CA was 23.3 +/- 5.6 years. Chromosomal anomalies were: monosomy X 56%; mosaicism 37.2%; structural aberration 10.6%. Mean final height in the whole group was 141.5 (129-160) cm. There was no significant difference in height between the three groups: monosomy X (n = 121: 141.1 +/- 6.4 cm); mosaicism (n = 72: 141.5 +/- 7.5 cm); X anomaly (n = 23: 141.4 +/- 5.0 cm). Mean parental height was 170.4 +/- 7.1 cm (father) and 160.1 +/- 6.2 cm (mother). Parental height and patients' heights correlated significantly, but more so with fathers' heights (r = 0.50) than with mothers' (r = 0.42). The correlation was still apparent with the target height (r = 0.55). The results of different series in the literature show the existence of significant variations as mean final heights are between 136 and 147 cm. These differences can be explained by the variations in normal female heights in each country. We have found in these different countries a very strong correlation (r = 0.91) between normal height and final height in Turner's syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Clinical identification of a human equivalent to the short ear (se) murine phenotype.

Mutations in the BMP-5 gene at the mouse short-ear locus alter size, shape, and number of many different skeletal elements, and greatly reduce the size of the external ear. The alterations in short-ear mice are confined to particular skeletal features and a human equivalent is not known. We report on 5 patients whose features fit into the clinical criteria of the EPS (ear, patella, short stature) syndrome characterized by very short external ears, small jaw, growth retardation, and different skeletal abnormalities including absent patellae. We postulate on clinical data and phenotype comparisons that some EPS cases might be a human equivalent to the short ear murine disorder.

Animals↗
PubMed1994

Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes.

Gingival fibromatosis may be reported as an isolated finding or associated with a number of distinct and frequently inherited group of disorders. The characteristics of the Laband syndrome include gingival hyperplasia, dysplasia of the terminal phalanges and nails of extremities, hepatosplenomegaly and facial dysmorphism. Another well-known syndrome with gingival fibromatosis associates generalized hypertrichosis and inconstant mental retardation and epilepsy. We report a case with features of Laband syndrome and congenital marked hypertrichosis, suggesting overlap between these two genetic disorders.

Abnormalities, Multiple↗
PubMed1994

[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].

During mammalian embryogenesis, the presence of the SRY gene determines the bipotential gonad to develop as a testis. 46,XY sex reversal has been described in man. It is associated with an essentially female phenotype and a streak gonad. In a collaborative study, we analysed 36 patients with a 46,XY sex reversal. The testis determining region of the Y chromosome was analysed by Southern blotting and by DGGE analysis of the SRY open reading frame (orf). We found a total of 7 mutations in the testis determining region including the SRY gene. This brings to 19 the total number of mutations in SRY associated with sex reversal. No relationship was found between the SRY status and the presence or absence of gonadoblastoma. However, a correlation was observed between the SRY genotype and the histology of the gonad. A mutant in SRY is associated with a completely dysgenetic gonad. The presence of immature testicular tubules is usually observed when SRY is normal. These latter results suggest the existence of as yet unidentified testis determining genes.

DNA-Binding Proteins↗
PubMed1993

Familial occurrence of hereditary renal adysplasia with müllerian anomalies.

We report on a family with unilateral or bilateral renal agenesis and Müllerian anomalies (vaginal atresia or minor anomalies). This family provides support for an autosomal dominant pattern of inheritance with incomplete penetrance and variable expressivity in hereditary renal adysplasia (HRA) associated with Müllerian defects.

Abnormalities, Multiple↗
PubMed1993

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

A mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosomal dominant disorders that show great phenotypic variability. This report emphasises the overlap between the LADD and the EEC syndromes.

Abnormalities, Multiple↗
PubMed1993

[Klinefelter syndrome in 1993. Results of a multicenter study on 58 cases and review of the literature].

A retrospective multicenter study found 58 cases of Klinefelter syndrome of which 23 (39%) were diagnosed before puberty. Although as common as Down syndrome, Klinefelter syndrome is underdiagnosed and often recognized only in adulthood. Suggestive manifestations in infants, children, and teenagers include facial dysmorphism, micropenis, and delayed speech and should lead to examination of the karyotype. Early recognition of Klinefelter syndrome could be achieved by routinely measuring the size of the testes in school-boys aged 11 to 15 years and performing a karyotype in boys with a volume of less than 2 ml. Early psychological and educational support and testosterone replacement therapy initiated at onset of puberty may lead to improved social and academic outcomes.

Adolescent↗
PubMed1993

Marfanoid features and craniosynostosis: report of one case and review.

A new syndrome was delineated by Shprintzen and Goldberg (1982) based on the description of two patients with scaphocephaly, facial dysmorphism, arachnodactyly, mental retardation and other connective tissue defects. Sugarman and Vogel (1981) reported another child with the same overall pattern of anomalies. A fourth patient with normal mental development was described by Furlong et al. (1987) as a new syndrome. We report on another example of marfanoid features associated with craniosynostosis. This boy has no mental retardation and the case seems to be similar to the Furlong case but different from the others because of the lack of mental retardation.

Abnormalities, Multiple↗
PubMed1992

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

A two month-old girl was diagnosed as a case of Rubinstein-Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16: 46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported.

Chromosome Banding↗
PubMed1992

New case of Toriello-Carey syndrome.

A new syndrome was identified by Toriello and Carey (Am J Med Genet 31:17-23, 1988), based on the description of four children, three of whom were sibs. The main manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe findings in a patient, presumed to be another case of the Toriello-Carey syndrome, which extend the phenotype of the syndrome.

Abnormalities, Multiple↗
PubMed1992

Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study.

In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and an unaffected brother's DNA, we analyzed the two androgen receptor gene polymorphisms described, the HindIII and the exon 1 CAG repeat polymorphisms, in order to distinguish the two maternal X chromosomes, and to detect carriers of AIS. We did not find any large deletion among the 52 patients. We observed a heterozygous mother in 3 of 14 families studied with the HindIII polymorphism, and in 12 of 25 families using the exon 1 CAG repeat polymorphism. This study suggests that in AIS, abnormalities in androgen receptor response could be related to point mutations or microdeletions rather than to gross structural alterations of the androgen receptor gene. Furthermore, unless the point mutation has been described, exon 1 and HindIII polymorphism studies would enable the identification of carriers in 50% of families, and the prenatal diagnosis of AIS.

Androgens↗