Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet.

OBJECTIVE: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS AND METHODS: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis. RESULTS: The short arm deletion of chromosome 20 arising from the isochromosome encompassed two candidate genes PAX1 and JAG1 involved in cranio-facial and vertebral development. CONCLUSION: The data would allow establishing a phenotype-genotype correlation. Thus, we proposed to define a recognizable syndrome combining cranio-facial dysmorphism, vertebral bodies' anomalies, feet and cerebral malformations.

Conservative treatment of flatfoot in the newborn.

Excessive pronation of the feet is almost a universal condition among children, which is demonstrated as an abnormal weight-bearing position on hard, flat surfaces. Excessive pronation of the feet of children is closely associated with intrinsic and extrinsic skeletal deformity in adults; consequently, it must be neutralized as a basic necessity to most proper footcare, as the child grows. It must be a priority of podiatric medicine to develop a practical plan for supervision of foot health from the earliest weight bearing in infancy and to work in close cooperation with parents and pediatricians in doing so.

The developmental anatomy of pes valgo planus.

Pes planus or flatfoot becomes a medical problem only when symptoms develop. The mere absence of a well-formed medial longitudinal arch does not necessarily imply pathology. Many apparently "flat feet" demonstrate congruent joints, and the extremities function normally. The size and shape, as well as the angles of declination for the talus or astragulers and the calcaneus or os calcis, are most often determined at the moment of fertilization by the genes of the patients. The zygote or fertilized ovum is a first totipotent. Cell division normally occurs as development proceeds, but the embryo is vulnerable to alterations of the cell cycle. Teratogenic substances can induce death or substantial structural modifications to the developing fetus. The post-World War II tragedy of the medical use of the drug thalidomide in pregnant mothers resulting in amelia is testimony as to how the lower extremity can be adversely affected. Early chromosomal aberrations including duplication, deletion, breakage, inversion, translocation, and mosaicism have been shown to be involved in faulty development of the foot, and there is no reason not to implicate pes valgo planus to these events. Intrauterine development apart from the genetic considerations just mentioned place the fetus under additional jeopardy. Even extraembryonic membranes can form strands of tissue that can entangle the delicate developing foot plate, and calcaneovalgus deformities could conceivably be established. The developing embryo and fetus first demonstrate a blastema that forms limb buds on the ventral caudal aspect. Anlage of the scleroblastema and myoblastema of the prospective leg and foot develop in the presence of nerve trunks. Such nerves are related to the lumbosacral plexus and they are thought to exert inductive developmental influences. Interference with any of these events may be implicated in pedal deformities such as pes valgo planus. This is also true of subsequent morphogenetic events involving embryonic rotations, osteogenesis, and myogenesis. Many pedal deformities have congenital basis and it is clear that pes valgo planus is one of them. Post-natal structural changes further accentuate underlying etiologies. For example, the calcaneus normally exhibits a varus position at birth, but this feature diminishes until the cessation of bone growth. The adult talar neck-calcaneal angle is normally about 24 degrees, representing a 6-degrees reduction from that of 30 degrees, which is demonstrated at birth.(ABSTRACT TRUNCATED AT 400 WORDS)