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Biomedical subjects

M P Cordier

Publications and source records attributed to M P Cordier.

At least 19 recordsLinked to original sources
PubMed2005

[MURCS association: a challenging diagnosis].

MURCS association includes Mullerrian duct aplasia-hypoplasia (MU), renal malformations (R) and cervicothoracic somite dysplasia (CS). This rare disease (1/50 000 females) is sporadic and of unknown aetiology. The reported case is the first one with additional esophageal atresia and ovarian mature teratoma. Esophageal atresia first led to the diagnosis of VACTERL association, which is more frequent and well known, showing that the identification of such malformative association may be challenging. The presence of mullerrian abnormality has allowed the diagnosis of MURCS association, as there is no mullerrian hypoplasia in VACTERL association. Therefore the association of isolated or combined renal and cervical malformation with VACTERL features should lead to the search for mullerrian abnormalities.

Abnormalities, Multiple↗
PubMed2005

[Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases].

We report the cases of 2 boys and 1 girl suffering from Netherton syndrome. Both boys presented with a non-bullous congenital erythroderma and were diagnosed early as Netherton syndrome with hair biopsies. Both had severe failure to thrive, signs of atopy, several episodes of bacterial infection, and rickets (with a high blood level of vitamin D in the first boy, and vitamin D deficiency in the second). In the third case, the pilar abnormality appeared at the age of 3 years. The girl had ichtyosis linearis circumflexa, failure to thrive and severe constipation. Netherton syndrome is a rare disorder characterized by severe ichtyosis, signs of atopy, immune deficiency and failure to thrive. The disease is severe and comprises many complications in early infancy. It is due to a genetic disorder of recessive autosomal transmission, and the gene, SPINK5, is located in the chromosome 5. Prenatal diagnosis is possible. Two of our patients had rickets, which has never been described in such patients population.

Carrier Proteins↗
PubMed2004

[Macrocephaly and multiple hamartoma: a very variable entity].

UNLABELLED: The Bannayan-Zonana is a dominant autosomal polymalformation syndrome. CASE REPORT: We report a case of Bannayan-Zonana syndrome in a 3-year-old girl, who presented with macrocephaly and a cervical lipoma. The patient's mother had neurofibromatosis I. No mutation in the PTEN gene was found. The slowly progressive lipoma increased with age and the surgical reduction was necessary. COMMENTARIES: Macrocephaly is constant in different syndromes characterized with multiple hamartomas. The multiple hamartomas syndrome represents an entity with a high variability of expression.

Child, Preschool↗
PubMed2002

[Unilateral focal dermal hypoplasia].

INTRODUCTION: Goltz's syndrome or focal dermal hypoplasia is an X-linked dominant disease. Patients suffer from cutaneous, bone, dental and ocular disorders. The mutated gene has not been identified. CASE-REPORT: A 16 month-old girl presented, since her birth, numerous malformations and cutaneous lesions. She had only three toes and three metatarsians on the right foot. The right hand possessed only four fingers but five metacarpiens. No bone abnormality was observed on the left side. Cutaneous lesions were also limited to the right side: linear para-median epidermal hamartoma on the face, several areas of alopecia, longitudinal atrophic and hyperpigmented striations on the lower limbs. Both median incisors were dysplasic. Nails of right hand and foot were absent or striated. Radiographies did not show infra-clinical bone lesions. At birth, trans-fontanellar sonography and sonographies of thorax and abdomen were normal, as well as ophthalmological examination. Psycho-motor development was normal. The diagnosis of Goltz syndrome was proposed. There was no other case in the family. DISCUSSION: This case is very unusual because lesions were restricted to the right side. To our knowledge, only one other case has been reported. Mutation de novo is probable and may be post-zygotic. In the future, there is no reason to fear the occurrence of another case in this family.

Abnormalities, Multiple↗
PubMed2001

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. Here we report on a series of 22 patients including 10 boys and 12 girls with acromicric dysplasia. Length was normal at birth and height fell progressively off the centiles postnatally. The mean adult height was 130 cm (133 cm in males, 129 cm in females). The hands, feet, and limbs were short and OFC was normal. Intelligence was normal and mild dysmorphic features were noted. Other occasional features included well developed muscles, a hoarse voice, generalised joint limitation in some patients, frequent ear, tracheal, and respiratory complication, and spine abnormalities. Long term follow up showed that facial dysmorphism was less obvious in adults and that carpal tunnel syndrome was frequent in older patients. Apart from short metacarpals and phalanges, internal notch of the second metacarpal, external notch of the fifth metacarpal, and internal notch of the femoral heads, there were no major x ray abnormalities. No major complications, such as cardiac disease or major orthopaedic problems, occurred in the course of the disease. The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance.

Abnormalities, Multiple↗
PubMed2000

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophosphatasia. Twenty distinct mutations were found, 5 of which were previously reported. Nine of the 15 new mutations were missense mutations (T117N, A159T, R229S, A331T, H364R, D389G, R433H, N461I, and C472S). The others were 2 nonsense mutations (L-12X and E274X), one single nucleotide deletion (1256delC), 2 mutations affecting splicing (298-2A>G, 997+2T>A), and a mutation in the major transcription start site (-195C>T). Hum Mutat 15:293, 2000.

Alkaline Phosphatase↗
PubMed1998

Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.

The Smith-Lemli-Opitz syndrome, characterized by limb, face and organ abnormalities, and mental retardation, is caused by an inherited block in the step of cholesterol biosynthesis in which the delta 7 double bond of 7-dehydrocholesterol is reduced. It is diagnosed by the presence of markedly elevated levels of 7-dehydrocholesterol and 8-dehydrocholesterol in plasma and tissue. We measured amniotic fluid sterols in 15 pregnancies in 13 women who had previously carried an affected fetus. Cholesterol, 7-dehydrocholesterol and 8-dehydrocholesterol concentrations averaged 18 +/- 3, 9.8 +/- 2.9 and 5.0 +/- 1.7 micrograms/ml, respectively, in seven pregnancies with an affected fetus or child. In contrast, these levels were 19 +/- 3, 0.05 +/- 0.01 and < 0.005 micrograms/ml, respectively, in eight increased-risk pregnancies with normal outcomes and 16 +/- 2, 0.07 +/- 0.01 and < 0.005 micrograms/ml in normal controls. 7-dehydrocholesterol concentrations, 2.2-26 and 0.05-0.10 micrograms/ml in pregnancies with an affected and unaffected fetus, respectively, did not overlap. Thus, abnormally elevated amniotic fluid dehydrocholesterol concentrations are an accurate predictor of fetal Smith-Lemli-Opitz syndrome. A false-positive or a false-negative result is highly unlikely.

Adult↗
PubMed1991

[Ehlers-Danlos syndrome and pregnancy. Apropos of a case].

Ehlers-Danlos Syndrome is a hereditary dysplasia of connective tissue with an abnormality in collagen synthesis. The syndrome consists of increased elasticity and fragility of the skin, increased laxity of the ligaments of the joints and fragility of the blood vessels. It is rarely associated with pregnancy but when it is several problems arise which are demonstrated in our case. Our patient had a type III syndrome (hypermobility of the joints) or a type IV syndrome (echymoses, Sack-Barabas Syndrome). In the literature the following are reported: premature rupture of the membranes with premature delivery, tears, perineal haematomas and type IV ruptures of the great vessels of the uterus. The best way of delivering and anaesthetising the patient are discussed. The prognosis depends above all on the type of the disease (25% of mothers die in type IV disease). Strict rest and Pfannestiel lower segment Caesarean section operation under general anaesthetic allowed us to achieve a favorable outcome for the mother and for her child.

Adult↗
PubMed1988

[Prenatal diagnosis of fetal nephro-uropathies].

Congenital malformations in the urinary tract are frequent. In most cases, their antenatal diagnosis is possible by ultrasonography (provided it is performed by an experimented echographist). The author studies the timing and the various images of the prenatal ultrasound diagnosis and the management of the different uropathies once identified.

Abnormalities, Multiple↗
PubMed1987

[Renal hypoplasia, polydactyly, cardiopathy: a new syndrome?].

The occurrence of a polymalformation pattern associated with a polydactyly indicates a mendelian inheritance. We report a case with renal hypoplasia, polydactyly, congenital heart defects. A large literature review makes the differential diagnosis and brings this case nearer to an anterior observation of the literature. We discuss an eventual new syndrome with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1987

[Female pseudohermaphroditism associated with cloacal dysgenesis].

Pregnancy terminated for a severe oligoamnios and renal dysplasia. Chromosomal, gonadal, internal genitalia sexes are female. There is a cloacal dysgenesis, with caudal appendice and hypoplastic external genitalia of male type. Single umbilical artery and congenital cardiac malformation (complete atrio ventricular communication) are associated. Embryopathologic explanation for this female pseudo-hermaphroditism is proposed.

Abnormalities, Multiple↗