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Biomedical subjects

S Manouvrier-Hanu

Publications and source records attributed to S Manouvrier-Hanu.

At least 19 recordsLinked to original sources
PubMed2001

[Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease].

UNLABELLED: Dyggve-Melchior-Clausen syndrome (DMCS) is an autosomal recessive skeletal dysplasia. Clinical and radiological similarities with Morquio's syndrome can initially lead wrongly to this diagnosis. CASE REPORT: A nine-year-old boy had mental retardation and progressive postnatal dwarfism. Platyspondyly and dysplastic epiphyses and metaphyses resembled those of Morquio's disease; however, clinical and radiological data led to the diagnosis of DMCS. CONCLUSION: Clinical and paraclinical features allowing the differentiation of Morquio's syndrome and DMCS are discussed. Initial clinical presentation may be similar, but the intellectual prognosis is different.

Bone Diseases, Developmental↗
PubMed2001

CARD15 mutations in Blau syndrome.

We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition to Crohn disease, CARD15 is involved in the susceptibility to a second granulomatous disorder.

Arthritis↗
PubMed2001

Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.

OBJECTIVE: To review the possible craniomaxillofacial deformative consequences associated with ectodermal dysplasias and embryonic malformations, which include dental ageneses. SETTING: Oral and Maxillofacial Surgery Department, University Hospital, Lille, France. PATIENTS: Sixteen patients (seven boys and nine girls, aged 4 to 34 years) with pure ectodermal dysplasia (no ectodermal dysplasia syndromes). INTERVENTIONS: All patients had a clinical examination. Seven (two boys and five girls, aged 4 to 25 years) had undergone plaster casts and radiographic and Delaire's cephalometric studies before being treated. MAIN OUTCOME MEASURES: All patients had tooth ageneses (from hypodontia to anodontia), associated with cutaneous dyshidrosis and hair and nail dystrophy. Most of them had a short face, with an unusual facial concavity, a maxillary retrusion, and a relative mandibular protrusion. MANAGEMENT RESULTS AND DISCUSSION: Depending on their ages and their orthopedic abnormalities, patients underwent either dental or prosthodontic, orthodontic, orthopedic, orthognathic, or implant treatment. So as not to interfere with the growth pattern, we preferred to reserve implant and orthognathic surgery for full-grown cases. CONCLUSIONS: Oral and maxillofacial surgeons must undertake a comprehensive approach to these patients to improve their dental, masticatory, growing, and orthognathic conditions.

Adolescent↗
PubMed2000

[Value of fetopathological examination in medical abortions: comparison of prenatal diagnosis and autopsy results of 300 fetuses].

This 3.5-year retrospective study report 300 fetus autopsies after pregnancy termination because of prenatal diagnosis of malformation. The objective was to evaluate the usefulness of postnatal examination of fetuses and to compare the post mortem findings with the prenatal diagnosis. This study included ultrasonography, radiology, karyotype, microbiology, genetic counseling and detailed pathological evaluation of the fetus: external, macroscopic, microscopic, brain and placenta examination. The results of post mortem examination were of paramount importance: they either changed the prenatal diagnosis hypothesis (20.3%), provided extensive additional information (41%), or confirmed the diagnosis hypothesis (38.7%). This study confirms the need for fetopathology examination after medical abortion. The pathologist's contribution to the multidisciplinary management of prenatally diagnosed fetal abnormalities is fundamental in particular for further genetic counseling; a specialized pathologist should be present in all prenatal diagnosis centers.

Abortion, Induced↗
PubMed1999

The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.

We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.

Clubfoot↗
PubMed1999

Genetics of limb anomalies in humans.

The limbs have an essential function in all vertebrates. In animals, the key genes that are involved in the growth and patterning of the limb buds, and of the development of the complex extremities, have been identified and their interactions recognized. Aided by these discoveries, human genetics has also been able to identify, or at least localize, certain genes responsible for anomalies of the limbs. These malformations are isolated or associated with anomalies of other developmental fields, according to the expression domain of the gene involved. Increasing knowledge of the embryology and genes involved has lead to a regrouping of malformation manifestations in genetics terms. Clear genotype-phenotype correlations are difficult to establish owing to the interlinking network of genetic signals underlying limb development.

Animals↗
PubMed1999

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental retardation, associated in the first sib with transient autistic behaviour. Some dysmorphic features of CLS (in particular forearm fullness and tapering fingers) and many atypical findings (some of which were reminiscent of FG syndrome) were observed as well. The moderate phenotypic expression of this mutation extends the CLS phenotype to include less severe mental retardation and minor, hitherto unreported signs. The missense mutation identified may be less deleterious than those previously described. As this mutation occurs in a protein domain with no predicted function, it could be responsible for a conformational change affecting the protein catalytic function, since a non-polar amino acid is replaced by a charged residue.

Abnormalities, Multiple↗
PubMed1998

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

A family with two male cousins affected with myotubular myopathy (MTM) was referred to us for genetic counselling. Linkage analysis appeared to exclude the Xq28 region. As a gene for X linked MTM was recently identified in Xq28, we screened the obligatory carrier mothers for mutation. We found a 4 bp deletion in exon 4 of the MTM1 gene, which originated from the grandfather of the affected children and which was transmitted to three daughters. This illustrates the importance of mutation detection to avoid pitfalls in linkage analysis that may be caused by such cases of germinal mosaicism.

DNA Mutational Analysis↗
PubMed1996

Fryns syndrome and erupted teeth in a 24-weeks-old fetus.

We describe a 24-weeks-old fetus with Fryns' syndrome (FS) and two erupted incisors. The present observations is another example of prenatal diagnosis of FS, based on ultrasonographically detected hernia diaphragmatica and cystic hygroma. It also adds an hitherto non described finding in FS. The presence of prenatally erupted teeth without any similar family history is discussed.

Chromosome Aberrations↗
PubMed1996

Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels.

The association of pelvi-ureteric junction obstruction (PUJO) and rapidly fatal persistent pulmonary hypertension of the newborn (PPHN) has been observed in two male siblings. PUJO was also observed in a maternal uncle, whose daughter suffered from vesico-ureteral reflux (VUR). In both patients, histopathologic study of the lungs showed misalignment of pulmonary veins (MAPV), which is a rare autosomal recessive condition leading to severe PPHN and death within the neonatal period. It has occasionally been described associated with PUJO. The authors point out that: i: MAPV has to be carefully searched in case of PPHN; ii: PUJO could be an important finding associated with MAPV, and the only prenatal indication of this lethal condition.

Humans↗
PubMed1995

Prenatal diagnosis of metatropic dwarfism.

We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic 'dumb-bell' appearance of the long bones.

Adult↗
PubMed1995

[Steinert's disease and pregnancy. A case report and recent literature].

Steinert's disease or myotonic dystrophy is a heredo-degenerative neuroendocrinal dystrophy. It is an autosomal dominant disorder. The arising of a congenital myotonic dystrophy of one of the new-born children of the maternity hospital enabled to diagnose the Steinert's disease of his mother. A review of the international literature enabled us to recall its interactions with pregnancy. There is an aggravation of myotonia and multiple obstetric complications such as miscarriage, premature onset of labor, polyhydramnios, stillbirth, difficulties during the evacuation, atonic postpartum hemorrhage, anesthetic-accidents. The congenital variant of myotonic dystrophy (6 to 30% of the cases) is a severe disease with a high mortality. It is only seen in the offspring of mothers who themselves have myotonic dystrophy. The myotonic dystrophy gene has been isolated and the mutation-causing myotonic dystrophy was found to result from a series of trinucleotide (CTG) repeats located in the 3' untranslated region of the gene. The direct diagnosis is henceforth possible both on the fetus and parents. Steinert's disease and its association with pregnancy are rare, especially when the affected parent has hypogonadism. The diagnosis of the congenital form is difficult because of the mother is unaware of the disorder. Family and personal history may give hints: hydramnios, appearance delay and reduced fetal movements, and the association at birth of generalized hypotonia with neonatal respiratory distress.

Adult↗
PubMed1990

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.

Abnormalities, Multiple↗
PubMed1990

[Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case].

G.A.P.O. syndrome is a rare autosomal recessive disorder whose main manifestations are growth retardation, alopecia, pseudo-anodontia, and optic atrophy. Optic atrophy has been reported in 30% of affected patients, along with other optic disc and ophthalmological abnormalities, but their causes remain unclear. We report here the ophthalmological findings in a three-year-old girl suffering from typical G.A.P.O. syndrome with ocular abnormalities and bilateral optic atrophy. Physiopathogenic hypotheses are discussed, especially concerning optic disc alterations which are probably due to intraocular hypertension.

Abnormalities, Multiple↗