1/13. Melnick-needles syndrome.A 10-year-old female with a generalized bone dysplasia was found to have a rare condition, Melnick-needles syndrome. Characteristic clinical features of this syndrome include exophthalmos, hypertelorism, micrognathia, malaligned teeth, and large ears in a person with multiple bone deformities. In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is the first case of Melnick-needles syndrome reported in the ophthalmological literature and the first case reported with ophthalmological findings other than exophthalmos and strabismus.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/13. Diamniotic twin gestation discordant for renal dysplasia and oligohydramnios.Severe oligohydramnios and renal dysplasia were detected in one of diamniotic, monochorionic twins at 19 weeks' gestation. At birth (37 weeks), the affected twin had only minimal extrarenal Potter's features and mild pulmonary hypoplasia, despite severe renal dysplasia due to posterior urethral valves. The effects of virtual absence of amniotic fluid during the latter half of gestation from bilateral renal dysplasia were ameliorated by the presence of a normal co-twin and its normal amniotic fluid levels, even though the affected twin did not share the same amniotic fluid.- - - - - - - - - - ranking = 7keywords = dysplasia (Clic here for more details about this article) |
3/13. Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora.The cases of two sisters with severe diastrophic dysplasia who showed some unusual radiographic features (kyphosis secondary to hypoplasia/dysplasia of the lumbar spine and a 'monkey wrench' appearance of the proximal femur) are reported here. Absent patellae were another feature that has not previously been reported in diastrophic dysplasia.- - - - - - - - - - ranking = 7keywords = dysplasia (Clic here for more details about this article) |
4/13. Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero.Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid-gestation, strongly suggests that a similar mechanism occurred in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
5/13. Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and epilepsy followed-up for 30 and 19 years, respectively. family history was unremarkable but for consanguinity. Pregnancies and deliveries were uneventful. At birth, length was 46 (-3SD) and 45 (-4SD) cm, respectively. Craniofacial dysmorphism was noted: severe nasal hypoplasia, flat face, hypertelorism, a low nasal bridge, short stature. Skeletal abnormalities included epiphyseal stippling in the thoracic spine, bilateral proximal and distal humeri, femur, tibia and bilateral carpal and tarsal bones. The boy had a hemivertebrae T12, with absence of a rib. After the age of 6 years facial dysmorphism had improved. Final height was 154 cm (-3SD) in the boy and 158 cm (-0,5SD) in the girl. The boy was operated on for scoliosis. Both sibs had club feet, the girl had also genu valgum. IQ was evaluated to be 55 in the girl and 83 in the boy. The first non febrile generalized seizure appeared in the boy when he was 11 months of age, and in the girl when she was 25 months of age. Both had many other seizures and were taking antiepileptics. EEG were abnormal. Karyotypes were normal. Extensive screening for metabolic disorders was normal. Acquired in utero CDP were excluded. We suggest the sibs described in this report have yet another provisionally unique possibly autosomal recessive syndrome, with CDP and epilepsy as phenotypic traits.- - - - - - - - - - ranking = 7keywords = dysplasia (Clic here for more details about this article) |
6/13. Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome?A 6-year-old Algerian boy with "caudal regression syndrome" and spondylo-epiphyseal dysplasia is reported. We believe this represents a new malformation syndrome or a random association of two non-related entities.- - - - - - - - - - ranking = 5keywords = dysplasia (Clic here for more details about this article) |
7/13. Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks.We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.- - - - - - - - - - ranking = 6keywords = dysplasia (Clic here for more details about this article) |
8/13. Craniocarpotarsal dysplasia: the whistling face syndrome.Currently, 50 cases of craniocarpotarsal dysplasia, or whistling face syndrome (WFS), have been reported, with more than 60 anatomical anomalies involving the head, hands, and feet, in addition to the face. In spite of the fact that there is much information concerning the surgical correction of many of these deformities, such as the surgical program for the hands outlined by Call and Strickland in 1981, there is little information concerning the surgical correction of facial deformities. In view of this, we present here a case report of a patient with WFS and our surgical approach to the facial deformities involved. Since January 24, 1983, when this 7-year-old girl first came into our care, she has successfully undergone a total forehead reshaping, correction of congenital upper eyelid ptosis, and a bilateral commissuroplasty. Follow-up for more than three years has shown stable surgical results.- - - - - - - - - - ranking = 5keywords = dysplasia (Clic here for more details about this article) |
9/13. The campomelic syndrome--prenatal ultrasound investigations. A case report.The campomelic syndrome is a skeletal dysplasia of unknown aetiology which is apparent at birth and is characterized by bilateral bowing of the tibiae, clubfoot and other multiple congenital abnormalities. Up to 50% of cases are either stillborn or die within 24 hours of birth in respiratory distress. With a few exceptions, the remainder die within 10 months. The patient in this report demonstrated characteristic features of the syndrome which were detected antenatally by ultrasound and confirmed after delivery. The apparently female infant died 2 hours postpartum in respiratory distress, but was subsequently found to have a 46,XY chromosome constitution. autopsy and postmortem radiographs revealed multiple congenital abnormalities consistent with the campomelic syndrome. The findings in this case are discussed and the possibility of antenatal diagnosis is raised.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
10/13. The microsurgical dissection of a stillborn fetal clubfoot.A microsurgical dissection was performed on a clubfoot of a seven-month-old stillborn fetus with camptomelic dysplasia. The most important anatomic alteration was marked rotation of the calcaneus beneath the talus. The calcaneus was rotated around a vertical axis. Its anterior aspect was rotated medially, while its posterior aspect was rotated laterally. A series of photographs obtained during the dissection shows the degree of realignment achieved by each stage of the progressive or stepwise surgical dissection. dissection simulating a posteromedial release and plantar release failed to realign the hindfoot. A complete subtalar release was necessary to reposition the bones of the hindfoot completely. In this specimen, metatarsal capsulotomies were required to realign the forefoot, and the osteotomies of the tibia and tibula were required to straighten the angular deformities characteristic of camptomelic dysplasia, as well as the significant external torsion of these bones.- - - - - - - - - - ranking = 2keywords = dysplasia (Clic here for more details about this article) |
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