1/14. Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1). We report a female fetus of 20 weeks gestation with severe symmetrical deformity affecting all four limbs. These deformities were unusual in that there was upper limb peromelia and lower limb phocomelia. No additional major malformations were identified on postmortem examination. In particular there was no evidence of splenogonadal fusion or micrognathia and hypoglossia. The limb malformations in this case are associated with a de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1). The cytogenetic features of Roberts-SC phocomelia syndrome were not detected. Unfortunately, the fibroblast line died and no FISH or dna analysis could be carried out. In spite of this, the case is presented as it may be useful to other researchers in the selection of candidate genes for mendelian forms of peromelia and phocomelia. ( info) |
2/14. Antenatal diagnosis and obstetric management of cystic hygroma occurring in twin pregnancies. A case report. The lymphatic system has an early development in the embryo. Usually, its development is complete by the 40th postconceptional day. If this connection fails to develop, lymphatic stasis and dilatation of the lymphatic channels may occur, causing a number of pathologies such as: lymphangiomas, lymphangiectasis and cystic hygromas. prenatal diagnosis can be made during the first trimester of pregnancy by ultrasonographic examination. A case of a twin pregnancy associated with cystic hygroma and bilateral hypoplasia of lower and upper limbs of both foetuses without chromosomal abnormalities is reported. ( info) |
3/14. Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis. We report a 2-year-5-month-old girl with malformed lower limbs. The radiographic skeletal survey revealed agenesis of the ilio-pubic rami with pubic dehiscence, right hip dislocation, bilateral coxa vara, short femurs, femoro-tibial synchondrosis, bilateral hypoplastic tibiae more severe on the left side, and hypoplastic left calcaneus and talus. To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before. ( info) |
4/14. spinal cord involvement in pygopagus conjoined twins: case report and review of the literature. INTRODUCTION: Pygopagus conjoined twins are joined at the rump and have union of the gastrointestinal and genitourinary systems as well occasional involvement of neural elements. CASE REPORT: We report a case where the terminal spinal cords were fused, despite which there was only a minor motor deficit in the lower limbs after separation. The pre-operative and intra-operative findings are described and issues of long-term follow-up discussed. DISCUSSION: Seven other cases reported in the literature with varying degrees of involvement of the spinal cord and cauda equina are reviewed. ( info) |
5/14. A case of familial popliteal pterygium syndrome: early surgical intervention for successful treatment. A 2-year-old boy presented at our hospital with severe familial popliteal pterygium syndrome with extensive skin webbing from thigh to heel and severely reduced range of motion of the knee and ankle joints. For accomplishment of knee extension, the patient underwent surgery with resection of the fibrous bands, freeing of the sciatic nerve, Z-lengthening of the achilles tendon and multiple Z-plasties. One year after surgery, the patient can put his heel on the ground and has almost complete range of motion in the knee and ankle joints. ( info) |
6/14. Congenital diastasis of the inferior tibiofibular joint: report of three additional cases treated by the Ilizarov method and literature review. Congenital diastasis of the inferior tibiofibular joint presents clinical problems of talipes equinovarus, ankle diastasis, and leg-length inequality. In the past, foot disarticulation and prosthetic fitting has often been chosen as a solution because of the difficulty involved in functional reconstruction. The authors report three additional cases of congenital diastasis of the inferior tibiofibular joint that were satisfactorily treated by lengthening of the tibia and fibula and foot repositioning by the ilizarov technique. After treatment, all patients had a plantigrade, functional foot with normal sensation at skeletal maturity and were satisfied with the cosmetic and functional outcomes. The ilizarov technique is effective in accomplishing the goals of leg-length equalization and foot repositioning. ( info) |
| Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a "mermaid" is very rare (1.2-4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The case of a living female neonate with dipodic simelia (fusion of well-developed legs) is presented. No prenatal diagnosis was made and the newborn had an uneventful neonatal course following cesarean section delivery. The complex and striking malformation was obvious at birth and further evaluation revealed very poorly functioning kidneys, associated with abnormal anorectum, urogenital tract, and external genitalia, as well as a pelvic malformation. Supportive care was applied because of the poor prognosis and the child died at 7 weeks of age, due to renal failure. ( info) |
8/14. Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. Many authors consider sirenomelia to be an extreme form of caudal regression syndrome (CRS), while others argue that they are two distinct entities. Maternal diabetes mellitus is considered to be an important predisposing factor for both CRS and sirenomelia. Two rare cases of diabetic, dizygotic twin pregnancies, each with one normal and one affected fetus are presented. In case 1 the affected fetus had CRS. In case 2 the affected fetus had sirenomelia. The present cases suggest that the pathogenesis of CRS and sirenomelia is more complex than previously thought, that maternal diabetes is not the only underlying pathogenetic mechanism and that genetic or epigenetic factors probably contribute to the formation of these conditions. ( info) |
9/14. Tubular skin appendage, renal agenesis and popliteal web: a further example of the human homologue of disorganization (Ds). We describe a newborn infant with defects similar to those seen in mice heterozygous for the mutant disorganization (Ds) gene. The child had left popliteal webbing, left iliac bone hypoplasia, bifid scrotum, hypospadias, chordee deformity of the penis and a sacral dimple. Other anomalies included absence of the right kidney and a bizarre hamartomatous tubular skin pedicle on the left thigh. No obvious amniotic bands or oligohydramnios were noted. The similarity between the proband's anomalies, those in previously reported cases, and those found in mice support the possibility of a human homologue of the Ds gene. ( info) |
| Caudal regression syndrome is a rare disorder of distal spinal segments affecting the development of the spinal cord, with attendant sequelae. intelligence is preserved. The exact etiology is elusive, though maternal diabetes, genetic factors, and hypoperfusion might play roles. Recently, the role of teratogens has been studied in animal models. Treatment is difficult, multidisciplinary, and largely supportive. Lower limb deformities with sensory and motor loss and neurogenic bladder call for intensive and long-term attention. ( info) |