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Background: Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies., Cases Report: We report on 3 patients with Fryns syndrome in the french Indian Ocean islands (La Réunion and Mayotte islands). Pregnancies were complicated by polyhydramnios. All patients had coarse face, cloudy corneae, cleft lip / palate or high-arched palate, hypoplastic nails and brachytelephalangy. They died in the neonatal period. Two had CDH and 1 did not have a diaphragmatic involvement but a severe respiratory distress syndrome with refractory hypoxemia. Cytogenetic studies of blood lymphocytes and skin fibroblasts were normal., Conclusions: Fryns syndrome is the most common multiple congenital anomaly associated with CDH. The diagnosis is strongly suggested when CHD and brachytelephalangy are associated. Phenotypes with CDH similar to Fryns syndrome have been described with cytogenetic aberrations with G-banded chromosome analysis and submicroscopic chromosome deletions detected by high resolution karyotyping or array comparative genomic hybridization (CGH). Exclusion of chromosome aberrations (including isochromosome 12p in skin fibroblasts) is needed prior to making the diagnosis of Fryns syndrome. In sporadic cases, high resolution karyotyping or array CGH should be performed for correct diagnosis and genetic counselling.

Potter's reno-facial syndrome is a rare innate abnormality. We bring 4 observations repertoried at the maternity of military hospital of Tunis over a period of 6 years (1997 - 2002). The purpose of our work is to determine after a review of the literature the echographic and foetopathologic characteristics, and the forecast of this syndrome. The frequency of the bilateral renale agenesis is of 0.27 per thousand. Positive diagnosis bases essentially on the ultrasound of the 2th, or the 3-th trimester. The signs of appeal are essentially the oligoamnios associated to an hypotrophy. The caryotype is systematic to eliminate an associeted chromosomic abnormality. Foetopathologic exam is usefull for the diagnosis. Main abnormality except the urinary pathology is the lung hypoplasia. Therapeutic interruption of the pregnancy in this situation not compatible with the extra-uterine life., only type IV authorize the development of the pregnancy according to echographic data and of foetal urinaire biochemistry. We insist on the early practice of the morphological ultrasound between 20 - 22 weeks for the diagnosis of foetal abnormalities and the place of the genetic advice in association with the geneticist in the coverage of the couple.

Weill Marchesani syndrome is a congenital disease that combines microspherophakia and skeletal abnormalities. The authors report a 19-year-old male, born of a consanguineous marriage, with a progressive decrease in visual acuity. The general examination showed a squat look, dwarfism, muscle hypertrophy, short hands and feet, and joint stiffness. The ophthalmological examination showed that visual acuity was limited to hand motion in the right eye despite correction and no perception of light in the left eye. Intraocular pressure was 36 mmHg in the right eye and 40 mmHg in the left eye. The anterior chamber was irregular with iridophakodonesis and microspherophakia of both lenses. The zonula was partially ruptured in the right eye. The iridocorneal angle was narrow. Fundus eye examination showed a pale optic disc with an excavation of 9/10 on the right. In the left eye, the optic disc was totally excavated. Cardiovascular check-up revealed rheumatic aortic valvular cardiopathy. The therapy consisted of combined surgery: phakophagia with anterior vitrectomy plus trabeculectomy operated on the right eye. Weill Marchesani syndrome is a rare congenital affection with a recessive autosomal transmission. The visual prognosis is dominated by secondary glaucoma due to pupillary blockage by the mobile eye lens. This observation illustrates the seriousness of spontaneous progression in Weill Marchesani syndrome, justifying the necessity of lens extraction before the onset of complications.

Background: Viruses, such as those of congenital rubella and cytomegalovirus infection, have been associated with bone lesions of rarefaction., Case Report: A full-term neonate was admitted at bith (birth weight: 1,630 mg; head circumference: 29 cm) for hypotrophy. A severe growth retardation had been diagnosed at 32 weeks of gestation. The fetal karyotype was normal. Search for maternal toxoplasmosis, syphilis and rubella was negative. The neonate had a complex heart defect; skeletal X-ray films showed metaphyseal transverse bands of rarefaction of the long bones and longitudinally streaked band of sclerosis and rarefaction at the ends of the femora. Urine culture was highly positive for CMV while CMV IgM were negative and CMV IgG highly positive in serum., Conclusions: Neonatal bone changes usually seen in congenital rubella infection may also be observed in CMV infection.

The observation of a 16-year-old girl born with an ectromelia and an ipsilateral inflammatory verrucous epidermal nevus led us to a synthetic study of 17 similar cases already published since 1927: all these cases concern female patients and are characterized by a unilateral hypoplastic dysplasia, most often of limbs, and inflammatory epidermal hyperplastic lesions described as ichthyosiform, psoriasiform or verrucous, usually distributed on the same side on the skin overlying the dysplastic body areas. The skin lesions may be partly regressive after birth and their histological features are suggestive of inflammatory linear verrucous epidermal nevus (I. L. V. E. N.). These associations may be representative of a special form of Solomon's syndrome whose heterogeneity has be recently emphasized. We propose to subdivide it in 3 forms: the epidermal nevus syndrome (Solomon's syndrome)--the organoid nevus syndrome (Schimmelpenning's syndrome)--the I. L. V. E. N. syndrome, probably X-linked dominant inherited (lethal for hemizygous males), associated with ipsilateral hypoplastic body lesions and, however less frequently than in the epidermal nevus syndrome, with ocular and nervous abnormalities. The distribution of cutaneous lesions has some similarities with the pattern of skin symptoms of X-linked dominant traits such as chondrodysplasia punctata, focal dermal hypoplasia or incontinentia pigmenti. The most typical feature of this syndrome is the strong inflammatory aspect of the epidermal nevus erroneously described in previous cases as unilateral psoriasis or ichthyosiform erythroderma.

The association of cloverleaf skull and micromelia is reputed. X-ray images of the skull are typical; those of the skeleton are compatible with the thoracic dysplasia reported by Jeune, or with chondro-ectodermic dysplasia: short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, absent ossification of the terminal phalanges. The mode of inheritance of the syndrome is probably autosomal recessive. The association reported is undescribed until now, although cloverleaf skull can be associated with other bone deformities. Most often the latter are thanatophoric dwarfism or a syndrome including ankylosis of the elbow joints, occasionally of the knees, club-foot, syndactyly and absent phalanges.

The author shows that a combination of vascular diseases or anomalies with bone malformations other than the triad described by Klippel and Trenaunay or the Recklinghausen syndrome is not too rare. The author cites half-a-dozen such cases of different types, with anomalies in different parts of the body, from the cranium to the toes. The angiomas varied from naevus vinosus cavernoma, and the bone phy. In some cases the EEG shows pathological features.

The author reports a family study of fronto-metaphyseal dysplasia in a 2 months-old child, in his mother and maternal grand-mother. The child is the more severely affected, while the mother and the grand-mother have less severe manifestations of the syndrome. This evidence permits to confirm the X-linked recessive inheritance of the disease, with severe manifestations in males and variable expression in female carriers.

In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.

The authors report two female infants affected with a skeletal malformation syndrome, recently identified and probably genetic in nature, which includes as principal features a craniosynostosis with secondary midfacial hypoplasia and a characteristic facies. More specifically, the skeletal alterations include synostosis of the radius and humerus, congenital bowing of the femurs with fracturing during the neonatal period, and other minor anomalies of the thorax and extremities. The differential diagnosis includes serveral skeletal dysplasias such as the Campomelic syndrome, certain of the Acrocephalosyndactylies, and Osteodysgenesis Imperfecta. However, global comparison of the clinical and radiographic features permits their exclusion, allowing the consideration that we are dealing with a new syndrome, which has been named Multisynostotic Osteodysgenesis. The etiology of this disorder has not been elucidated, the two cases being isolated and without parental consanguinity. The authors, however, favor the theory of autosomal dominant inheritance. The difficulty of providing genetic counseling in the case of such poorly-understood syndromes is emphasized.

28 cases of neurofibromatosis are reported. Principals bone anomalies are reviewed. The skeletal manifestations are numerous and varied. These anomalies interest specially cranial vault, spheno-orbital area and vertebral spine. It is imperative to keep in mind skeletal manifestations because neurologic and cutaneous signs can be absent.

Epidermal naevus syndrome is an entity which has been well established by Solomon, Fretzin and Dewald since 1968, presenting cutaneous, visceral, ocular, osseous and neurological malformations. We report a case with multiple osseous manifestations affecting the entire skeleton, but mainly the skull (osteolysis with absence of frontal bone), the vertebral column (scoliosis with triple deviation), the upper right limb (demineralisation and multiple pathological fractures) and lower members (fractures of the right and left femur) with enlargement of the entire ventricular system and well marked scissures, signs of an cortico-subcortical atrophy shown by scanogram.

Mannosidosis remains an extremely rare entity (9 published cases). Our personal experience, based upon 5 cases, suggests that the diagnosis may be based upon both positive as well as negative clinical and paraclinical data, which differentiate the disorder from other diseases which it resembles. The use of simple methods--thin layer chromatography of oligosaccharides and measurement of serum mannosidase at pH 3.5 and 4.5--render diagnosis easy. It should, however, be mentioned that there exists no valid treatment for this apparently autosomal recessive disorder but that ante-natal detection is theoretically possible.

Mice with vaginal plugs were irradiated, seven hours after mating, i.e near fecundation, by 5, 10 and 25 rads of gamma rays from a 60Co source. Females were sacrificed on the 18th day of gestation. The total number of implantations was unchanged after exposure to 5 and 10 rads but the frequency of resorptions was increased for all doses. No abnormalities were observed in testicles, kidneys and skeleton.

The authors report a case of Klippel-Trenaunay syndrome in the upper limb of a 27 years old migrant manual worker. This very typical case due to agenesis of the humeral vein is used as a basis for a discussion of the theories of Servelle on the pathogenesis of this syndrome.

In the Noonan syndrome various anomalies can be demonstrated radiologically. Of particular interest are cardiovascular lesions, such as atypical pulmonary stenosis, hypertrophic cardiomyopathy and the lymphangiectasias. Skeletal anomalies can be found, including retardation of bone maturation and sternal abnormalities. Other anomalies concern the urinary tract (pyeloureteral stenosis) and the digestive system. Radiological diagnostic procedures allow to disclose various elements of this polymalformative syndrome. They should be performed whenever suggestive clinical signs are present, e.g. hypertelorism, gonadal dysgenesis, down-slanting palpebral fissures and shield-like chest.

A further case of the cerebro-oculo-facio skeletal syndrome is described. The child, the first of healthy parents with no significant family history, died on the 4th day of life because of renal failure and respiratory difficulties. The dysmorphic features were microcephaly, microphthalmia, high nasal bridge, lax skin with a prominent skin fold extending below the eyes, large upper lip, fixed flexion deformities of the limbs, short fingers with campodactyly, talus valgus and longitudinal plantar groove. At autopsy there was renal agenesis, a hypoplastic bladder, bilateral cataract with atrophy of the iris and retina. The relationship between Potter's syndrome and other oculo renal syndromes are discussed. The diagnosis is important because this syndrome is inherited as an autosomal recessive.

The authors describe a method of correction of limb deformities whilst allowing the length of the limb segment to be maintained. The apparatus used was the Wagner external fixator which first allows distraction at the site of an osteotomy followed by correction of angulation with suppression of this temporary lengthening.

A case of hemihypertrophy associated with multiple anomalies of the skin, bone and visceral organs is presented. A 31-year-old female was admitted for evaluation of her skin conditions. Her family history is noncontributory, while her past history discloses operations for syndactyly of the right foot, tonsillar hypertrophy, anal prolapse and ovarial cyst. Erythemas of the face and the left upper extremity were noticed during the neonatal period and hypertrophy of the right side of the body started at age 2 months. On admission, hemihypertrophy was observed in the face, trunk and extremities. Multiple faint nevi flammei were seen on the right half of the face and on the left side of the trunk and extremities. Telangiectasis and nevus anemicus were seen in the upper chest. The left upper extremity showed diffuse brown patches that was histologically basal pigmentation with some giant melanosomes. Visceral anomalies consisted of fibromatous tumors of the tip of the tongue and mitral prolapse. Angiography and computed tomography revealed a possible arteriovenous malformation of the right occipital region, small hemangiomas around the patella, dilation of the lateral ventricle, and calcification of the choroid plexus. Tortuous superficial veins were noted in the right leg. She had no seizure, but her IQ was 68. The bone disorders consisted of scoliosis, short forth metacarpus, hypoplastic mandible and peroneal exostosis. Examination revealed a slight diminution of urinary corticosteroid, but no other endocrinological disorders were found. The hemihypertrophy in this case is at least partially due to an arteriovenous shunt, suggested by elevated oxygen saturation of the blood obtained from the internal saphenous vein.(ABSTRACT TRUNCATED AT 250 WORDS)