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Biomedical subjects

J Battin

Publications and source records attributed to J Battin.

At least 19 recordsLinked to original sources
PubMed1995

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.

UNLABELLED: The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16 cases from the literature. The possible phenotype in the patient's mother suggests a dominant mode of inheritance for the syndrome. CONCLUSION: The Floating Harbor syndrome is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and delayed speech development. Inheritance is possibly autosomal dominant.

Age Determination by Skeleton↗
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↗
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↗
PubMed1991

Infantile acute hemorrhagic edema of the skin: study of ten cases.

Infantile acute hemorrhagic edema of the skin is not included as a separate entity in the current English-language literature as it is in continental Europe. Therefore we have attempted to clarify the nosologic position of acute hemorrhagic edema among cutaneous vasculitides in children, on the basis of our experience in 10 cases. Our study confirms that acute hemorrhagic edema affects infants between 4 and 24 months of age. The two main features are an ecchymotic purpura, often in a cockade pattern, and an inflammatory edema of the limbs and face. Visceral involvement is uncommon. Spontaneous and complete resolution occurs within 1 to 3 weeks; one to four attacks may occur. Histopathologic examination demonstrates a leukocytoclastic vasculitis. Perivascular IgA deposits can occasionally be found. Besides typical acute hemorrhagic edema, some cases in 2- to 4-year-old children appear to overlap with Schönlein-Henoch purpura. We suggest that typical acute hemorrhagic edema should be regarded as a separate clinical entity. This allows an appropriate prognosis to be made for this generally benign disease of infants.

Acute Disease↗
PubMed1991

Proteus syndrome in 7 patients: clinical and genetic considerations.

The Proteus syndrome is a congenital hamartomatous disorder delineated in 1983. Because of its polymorphic appearance, the syndrome was named after the greek god Proteus whose name means much less than the polymorphous much greater than. Major clinical findings include hemi hypertrophy, macrodactyly, exostoses, scoliosis, epidermal nevi, haemangiomas, deeply rugated soles of the feet and a variety of deep and subcutaneous masses. We report on 7 new cases of Proteus syndrome. All reported cases have been sporadic. Therefore this syndrome could be due to the action of a dominant lethal gene surviving by mosaicism.

Adult↗
PubMed1990

Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature.

The nevoid basal-cell carcinoma syndrome (NBCCS) is a rare autosomal-dominant inherited disorder. Its clinical manifestations are multiple basal-cell nevi and cysts of the jaw along with skeletal anomalies and various combinations of numerous other defects. NBCCS is characterized by a marked propensity for developing cancers. One of the most frequently reported tumour is brain medulloblastoma. We are reporting two cases of NBCCS and medulloblastoma. A review of the case reports demonstrates certain prominent features of medulloblastoma associated with NBCCS. The patients generally are males, presenting at an unusually young age, under 5 or 2 years and show a longer survival rate. Its lay down to search for NBCCS in early medulloblastoma's, especially under 2 years.

Adolescent↗
PubMed1990

[Development of the prevalence rate of four intestinal parasites in children].

During the last 2 decades, the same coprological techniques for the detection of parasites have been applied by the same team in the parasitology laboratories of the Children's Hospital of Bordeaux. A marked decrease in the prevalence of the most frequently occurring parasites (Giardia and Entamoeba coli cysts, Ascaris and Trichocephale eggs) has been observed. Similar results have also been found in other French parasitology laboratories. This reduction in the parasite infection rate is concomitant with a sustained improvement in public hygiene and the living standards of families. It is also likely that an evolution in childhood behaviour at school, outdoors, and at home, accounts for a decrease in intestinal parasites.

Adolescent↗
PubMed1990

[Etiologic and biologic heterogeneity of growth hormone deficiency: significance of neuro-secretory dysfunction].

The pharmacological tests and the 24 hours secretion permitted to accept 96 cases among a group of 301 children with short stature. The aetiologic parameters are numerous. There are too a great heterogeneity for the diagnostic criteria of GH deficiency: severe or partial, concordant or discordant between the two biologic methods with a new variety called neuro-secretory dysfunction with normal pharmacological tests and poor endogenous secretion.

Adolescent↗
PubMed1989

[Thyroglobulin and thyroid pathology in children].

Thyroglobulin, a marker for thyroid vesicles, is a normal constituent of serum. For the last ten years, thyroglobulin has been routinely assayed using a radioimmunologic double antibody technique. In children, normal values are usually under or equal to 30 ng/ml. Neonates have higher levels. The main indications of thyroglobulin assays in pediatrics include diagnosis of metastases of differentiated thyroid epitheliomas and etiologic diagnosis of congenital hypothyroidism. Thyroglobulin assays are less helpful in the other childhood thyroid diseases (goiter, hyperthyroidism).

Carcinoma↗
PubMed1989

[Allergy and desensitization to hymenoptera venom in children].

Among 15 children who were stung by hymenoptera, 5 underwent semi-rapid desensitization using the outpatient Molkhou method. This technique was well tolerated; desensitization was stopped when protective IgG levels measured by RIP (radioimmunoprecipitation) reached 50% and skin tests and RASTs became negative. In a comparable series of adults, however, discontinuation of the desensitization was considered only following satisfactory tolerance of an accidental or planned sting. In children, semi-rapid desensitization is very effective and has also been proposed for allergies to air borne allergens such as mites and pollens when increased doses are required to improve protection.

Adolescent↗